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searching for Metabolic disorder 140 found (246 total)

alternate case: metabolic disorder

Histidinemia (631 words) [view diff] exact match in snippet view article find links to article

Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of
Pipecolic acidemia (208 words) [view diff] exact match in snippet view article find links to article
Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic acidemia can also be an associated
Glutaryl-CoA dehydrogenase (836 words) [view diff] exact match in snippet view article find links to article
homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia
Hypervalinemia (276 words) [view diff] exact match in snippet view article find links to article
Hypervalinemia is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated
Macrocephaly (1,722 words) [view diff] no match in snippet view article find links to article
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic
Triosephosphate isomerase deficiency (424 words) [view diff] exact match in snippet view article find links to article
Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965. It is a unique glycolytic enzymopathy
Hawkinsinuria (400 words) [view diff] exact match in snippet view article find links to article
Hawkinsinuria is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine. Normally, the breakdown of the amino acid tyrosine involves
Purine nucleoside phosphorylase deficiency (733 words) [view diff] exact match in snippet view article find links to article
nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. In addition to the symptoms associated
Isovaleric acidemia (837 words) [view diff] exact match in snippet view article find links to article
Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine
Deoxyuridine (269 words) [view diff] exact match in snippet view article find links to article
belongs in the DNA, resulting in dUMP. UMP synthase deficiency is a metabolic disorder in humans that involves deoxyuridine. Deoxyuridine can be toxic. It
Karen König (287 words) [view diff] exact match in snippet view article find links to article
a deep masculine voice, severe depression, hormonal imbalance and metabolic disorder. Many other East German athletes related their health disorders to
2-Methylbutyryl-CoA dehydrogenase deficiency (500 words) [view diff] exact match in snippet view article find links to article
2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. It causes the body to be unable to process the amino acid isoleucine
Lucey–Driscoll syndrome (182 words) [view diff] exact match in snippet view article find links to article
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is one of several disorders
Galactokinase deficiency (720 words) [view diff] exact match in snippet view article find links to article
Galactokinase deficiency is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased
Arakawa's syndrome II (197 words) [view diff] exact match in snippet view article find links to article
Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals
Multiple carboxylase deficiency (117 words) [view diff] exact match in snippet view article find links to article
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase
3-Aminoisobutyric acid (361 words) [view diff] exact match in snippet view article find links to article
overexpression mice. BAIBA is proposed as protective factor against metabolic disorder since it can induce brown fat function. β-Alanine beta-Hydroxy beta-methylbutyric
NCS-382 (339 words) [view diff] exact match in snippet view article find links to article
as a treatment for GHB overdose in humans as well as the genetic metabolic disorder succinic semialdehyde dehydrogenase deficiency (SSADHD), but has never
Galactose-1-phosphate uridylyltransferase deficiency (1,280 words) [view diff] exact match in snippet view article find links to article
galactose-1-phosphate uridylyltransferase. It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of
Aminolevulinic acid dehydratase deficiency porphyria (1,149 words) [view diff] exact match in snippet view article find links to article
"plumboporphyria", or "ADP") is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic
Harderoporphyria (446 words) [view diff] exact match in snippet view article find links to article
more severe harderoporphyria. Harderoporphyria is the first known metabolic disorder where the disease phenotype depended on the type and location of the
Malonyl-CoA decarboxylase deficiency (1,061 words) [view diff] exact match in snippet view article find links to article
Malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts the activity of Malonyl-CoA
Gunther disease (1,820 words) [view diff] exact match in snippet view article find links to article
a person has Gunther's disease. It is a rare, autosomal recessive metabolic disorder affecting heme, caused by deficiency of the enzyme uroporphyrinogen
Galactosemia (1,854 words) [view diff] exact match in snippet view article find links to article
galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose
Dyslipidemia (2,959 words) [view diff] exact match in snippet view article find links to article
Dyslipidemia is a metabolic disorder characterized by abnormally high or low amounts of any or all lipids (e.g. fats, triglycerides, cholesterol, phospholipids)
Acute intermittent porphyria (2,873 words) [view diff] exact match in snippet view article find links to article
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen
Haemochromatosis type 3 (1,854 words) [view diff] exact match in snippet view article find links to article
reports and presented the idea that haemochromatosis was a congenital metabolic disorder. Hereditary haemochromatosis is a congenital disorder which affects
CNDP1 (836 words) [view diff] exact match in snippet view article find links to article
trinucleotide (CTG) repeat length polymorphism in the coding region. The metabolic disorder Carnosinemia may be caused by mutations in this gene. GRCh38: Ensembl
Phenylalanine hydroxylase (3,684 words) [view diff] exact match in snippet view article find links to article
In humans, mutations in its encoding gene, PAH, can lead to the metabolic disorder phenylketonuria. The reaction is thought to proceed through the following
Encephalopathy (1,929 words) [view diff] exact match in snippet view article find links to article
encephalopathy. Some examples include: Mitochondrial encephalopathy: Metabolic disorder caused by dysfunction of mitochondrial DNA. Can affect many body systems
Our Stolen Future (407 words) [view diff] exact match in snippet view article find links to article
explored the contribution of endocrine disruption to obesity and metabolic disorder. As is often the case, there is strong animal evidence but few epidemiological
GLUT1 deficiency (2,649 words) [view diff] exact match in snippet view article find links to article
transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports
Trimethylaminuria (4,384 words) [view diff] exact match in snippet view article find links to article
also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing
Carnitine palmitoyltransferase II deficiency (3,166 words) [view diff] exact match in snippet view article find links to article
to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty
Sterolin (936 words) [view diff] exact match in snippet view article find links to article
as sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder characterized by hyperabsorption and decreased biliary excretion of
CLPB (2,098 words) [view diff] exact match in snippet view article find links to article
space. Mutations in the CLPB gene could cause autosomal recessive metabolic disorder with intellectual disability/developmental delay, congenital neutropenia
Fructokinase (802 words) [view diff] exact match in snippet view article find links to article
or hepatic fructokinase deficiency is a rare but benign inherited metabolic disorder. This condition is caused by a deficiency of fructokinase in the liver
GM2 gangliosidoses (1,215 words) [view diff] exact match in snippet view article find links to article
death of the cells. Sandhoff disease is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and
Diabetic foot ulcer (8,175 words) [view diff] exact match in snippet view article find links to article
disturbs the wound healing process. Diabetes mellitus is one such metabolic disorder that impedes the normal steps of the wound healing process. Many studies
5,6-Dihydroxyindole (268 words) [view diff] exact match in snippet view article find links to article
indole-5,6-quinone. In humans, 5,6-dihydroxyindole is involved in the metabolic disorder hawkinsinuria. In some insects, 5,6-dihydroxyindole is a reactive
Malonyl-CoA (499 words) [view diff] exact match in snippet view article find links to article
role in the mitochondrial clearance of toxic malonic acid in the metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). In CMAMMA due
Citrange (291 words) [view diff] exact match in snippet view article find links to article
Citrange Story Citrange fruit extracts alleviate obesity-associated metabolic disorder in high-fat diet-induced obese C57BL/6 mouse. Population of Endogenous
Anaplerotic reactions (536 words) [view diff] exact match in snippet view article find links to article
hypoxia-inducible factor-1 beta Pyruvate carboxylase deficiency is an inherited metabolic disorder where anaplerosis is greatly reduced. Other anaplerotic substrates
Staggers (88 words) [view diff] exact match in snippet view article find links to article
Staggers may refer to: Staggers (surname) Grass staggers, a metabolic disorder of cattle and sheep, caused by magnesium deficiency Transport tetany in
AOD (327 words) [view diff] exact match in snippet view article find links to article
expressed as a height above mean sea level Adult Onset Diabetes, a metabolic disorder, characterized by high blood glucose Aerosol Optical Depth, a measure
Hypermetabolism (627 words) [view diff] exact match in snippet view article find links to article
Metabolic disorder in humans
MGA (349 words) [view diff] exact match in snippet view article find links to article
protecting relationships and reputation 3-Methylglutaconic aciduria, a metabolic disorder Mga (protein), a DNA-binding protein found in Streptococcus pyogenes
Uridine monophosphate (487 words) [view diff] exact match in snippet view article find links to article
synthase. Defective UMP synthase can result in orotic aciduria, a metabolic disorder. In a study, gerbils fed a combination of uridine monophosphate, choline
Neu–Laxova syndrome (841 words) [view diff] exact match in snippet view article find links to article
defects.[citation needed] Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by homozygous or compound heterozygous mutations in one of
Head pressing (336 words) [view diff] exact match in snippet view article find links to article
in healthy animals. Prosencephalon disease Liver shunt Brain tumor Metabolic disorder (e.g., hyponatremia or hyperatremia) Stroke Infection of the nervous
Nutritional genomics (1,347 words) [view diff] exact match in snippet view article find links to article
Phenylketonuria, otherwise known as PKU, is an uncommon autosomal recessive metabolic disorder that takes effect postpartum but the debilitating symptoms can be
MCC (1,144 words) [view diff] exact match in snippet view article find links to article
Germany 3-Methylcrotonyl-CoA carboxylase deficiency, an inherited metabolic disorder MCC (gene), a candidate colorectal tumor suppressor gene Merkel cell
List of diseases (I) (577 words) [view diff] exact match in snippet view article
Inborn branched chain aminoaciduria Inborn error of metabolism Inborn metabolic disorder Inborn renal aminoaciduria Inborn urea cycle disorder Incisors fused
Transaldolase deficiency (1,146 words) [view diff] exact match in snippet view article find links to article
Transaldolase deficiency is recognized as a rare inherited pleiotropic metabolic disorder first recognized and described in 2001 that is autosomal recessive
LPI (391 words) [view diff] exact match in snippet view article find links to article
non-porous materials Lysinuric protein intolerance, an autosomal recessive metabolic disorder affecting amino acid transport Leaf plastochron index, a measure of
Outline of biochemistry (703 words) [view diff] exact match in snippet view article find links to article
defects such as spina bifida. PKU test – Phenylketonuria (PKU) is a metabolic disorder in which the individual is missing an enzyme called phenylalanine
Cystinuria (1,631 words) [view diff] exact match in snippet view article find links to article
Amino acid metabolic disorder involving cystine stones forming in the kidneys, ureter, and bladder
GRACILE syndrome (609 words) [view diff] exact match in snippet view article find links to article
Suomalainen A, Peltonen L (October 2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". Am. J
Alexion Pharmaceuticals (1,377 words) [view diff] exact match in snippet view article find links to article
Drug Administration. It is used to treat hypophosphatasia, a rare metabolic disorder. In 2016, the company became a member of the Pharmaceutical Research
Catecholamine (2,050 words) [view diff] exact match in snippet view article find links to article
amounts of phenylalanine hydroxylase result in phenylketonuria, a metabolic disorder that leads to intellectual deficits unless treated by dietary manipulation
Farber disease (1,401 words) [view diff] exact match in snippet view article find links to article
S2CID 37749661. synd/453 at Who Named It? Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and
Homocitrulline (1,162 words) [view diff] exact match in snippet view article find links to article
possibly autoantibody formation, and possibly also in humans. In another metabolic disorder, in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
SUCLG1 (940 words) [view diff] exact match in snippet view article find links to article
succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. Succinate-CoA
Vyera Pharmaceuticals (1,130 words) [view diff] exact match in snippet view article find links to article
TRP-005 for epileptic encephalopathy, and TRP-011 for congenital metabolic disorder. "Leadership Team". Turing Pharmaceuticals. Retrieved 20 December
Asfotase alfa (1,144 words) [view diff] exact match in snippet view article find links to article
the source is acknowledged. "FDA approves new treatment for rare metabolic disorder". U.S. Food and Drug Administration (FDA) (Press release). 24 October
Primary hyperoxaluria (1,725 words) [view diff] case mismatch in snippet view article find links to article
Retrieved 26 December 2020. "FDA Approves First Drug to Treat Rare Metabolic Disorder". U.S. Food and Drug Administration (FDA) (Press release). 23 November
PSAT1 (546 words) [view diff] exact match in snippet view article find links to article
Hoischen A, Zenker M (2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway"
Histidine (2,524 words) [view diff] exact match in snippet view article find links to article
urocanic acid. A deficiency in this enzyme is present in the rare metabolic disorder histidinemia, producing urocanic aciduria as a key diagnostic finding
ACP2 (814 words) [view diff] exact match in snippet view article find links to article
(1970). "Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder". N. Engl. J. Med. 282 (6): 302–7. doi:10.1056/NEJM197002052820604
ACP2 (814 words) [view diff] exact match in snippet view article find links to article
(1970). "Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder". N. Engl. J. Med. 282 (6): 302–7. doi:10.1056/NEJM197002052820604
Sesamum alatum (630 words) [view diff] exact match in snippet view article find links to article
present in the plant which are said to combat Type 2 Diabetes and other metabolic disorder, characterized by chronic hyperglycemia, although the exact compounds
The So So Glos (760 words) [view diff] exact match in snippet view article find links to article
very early age. Singer/bassist Alex Levine was born with the rare metabolic disorder homocystinuria and lacks the proper enzyme to digest protein, which
Phospholipid scramblase (1,684 words) [view diff] exact match in snippet view article find links to article
diabetes, which is often a manifestation of a broader underlying metabolic disorder termed as metabolic syndrome. Further studies on the regulation of
Hyperhomocysteinemia (2,123 words) [view diff] exact match in snippet view article find links to article
heritable ectopia lentis. Homocystinuria is an autosomal recessive metabolic disorder most often caused by a near absence of cystathionine b-synthetase
Sodium- and chloride-dependent glycine transporter 1 (975 words) [view diff] exact match in snippet view article find links to article
impairment due to schizophrenia Mutations of the gene may cause a severe metabolic disorder discovered in 2016 and called glycine encephalopathy with normal serum
Andrea Prader (1,006 words) [view diff] exact match in snippet view article find links to article
movie "Lorenzo's oil". This is a primarily pediatric progressive metabolic disorder, demonstrating most commonly in boys between the ages of 5 and 15
Tissue remodeling (597 words) [view diff] case mismatch in snippet view article find links to article
(2016). "Adipose Tissue Remodeling: Its Role in Energy Metabolism and Metabolic Disorder". Frontiers in Endocrinology. 7: 30. doi:10.3389/fendo.2016.00030
Sweet Whispers, Brother Rush (1,001 words) [view diff] exact match in snippet view article find links to article
spring, and on an island in the Caribbean. Hamilton included the metabolic disorder porphyria in the novel because a close friend suffered from it; the
Arterial blood gas test (2,132 words) [view diff] exact match in snippet view article find links to article
, pCO2 ↑when pH is >7.4 or pCO2 ↓ when pH < 7.4, it is a primary metabolic disorder. These are typical reference ranges, although various analysers and
Primordial dwarfism (796 words) [view diff] exact match in snippet view article find links to article
children with PD do not grow like other children, poor nutrition, a metabolic disorder, or a digestive disorder may be diagnosed initially. The correct diagnosis
Fumarylacetoacetate hydrolase (2,540 words) [view diff] exact match in snippet view article find links to article
alanine and aspartic acid residues. Hereditary tyrosinemia type 1 is a metabolic disorder with an autosomal recessive mode of inheritance. The disease is caused
PSPH (1,134 words) [view diff] exact match in snippet view article find links to article
Hoischen A, Zenker M (Sep 2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway"
Amish lethal microcephaly (302 words) [view diff] exact match in snippet view article find links to article
Kevin A.; Morton, D. Holmes (2002). "Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria".
Small fiber peripheral neuropathy (1,893 words) [view diff] exact match in snippet view article find links to article
small fiber neuropathy. Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac disease or Sjogren
Yessentuki (2,337 words) [view diff] exact match in snippet view article find links to article
patients with diseases of digestion organs as well as those with metabolic disorder. The town has food-processing enterprises (a cannery, a dairy factory
Lumasiran (1,171 words) [view diff] case mismatch in snippet view article find links to article
Retrieved 26 December 2020. "FDA Approves First Drug to Treat Rare Metabolic Disorder". U.S. Food and Drug Administration (FDA) (Press release). 23 November
Tooth whitening (8,394 words) [view diff] exact match in snippet view article find links to article
brown and no longer fluoresces under UV light. Porphyria: A rare metabolic disorder in which the body fails to adequately metabolise porphyrins, which
Uridine monophosphate synthase (3,560 words) [view diff] exact match in snippet view article find links to article
the uncatalyzed process. A UMP synthase deficiency can result in a metabolic disorder called orotic aciduria. Deficiency of this enzyme is an inherited
Actelion (2,586 words) [view diff] exact match in snippet view article find links to article
is unsuitable. Type 1 Gaucher disease is a rare and debilitating metabolic disorder. Ventavis (iloprost): Ventavis is indicated for the treatment of pulmonary
Oral submucous fibrosis (3,299 words) [view diff] exact match in snippet view article find links to article
definition): 'A debilitating, progressive, irreversible collagen metabolic disorder induced by chronic chewing of areca nut and its commercial preparations;
Hall-Riggs syndrome (450 words) [view diff] exact match in snippet view article find links to article
retrieved 2022-08-27 Hall, B. D.; Riggs, F. D. (1975). "A new familial metabolic disorder with progressive osseous changes, microcephaly, coarse facies, flat
Branched-chain keto acid dehydrogenase kinase deficiency (705 words) [view diff] exact match in snippet view article find links to article
Autosomal recessive metabolic disorder
Sidney Farber (1,720 words) [view diff] exact match in snippet view article find links to article
jpedsurg.2014.10.054. PMID 25638637. Farber, S. (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and
Prepubertal hypertrichosis (3,384 words) [view diff] exact match in snippet view article find links to article
various medications, or even having an infection, genetic disorder, metabolic disorder, or eating disorders (particularly anorexia nervosa). Since hypertrichosis
Michael Karin (657 words) [view diff] exact match in snippet view article find links to article
model for studying how HCC development is promoted by the common metabolic disorder non-alcoholic steatohepatitis (NASH). Using the so-called MUP-uPA
RNA (7,522 words) [view diff] exact match in snippet view article find links to article
tsRNAs contribute to intergenerational inheritance of an acquired metabolic disorder" (PDF). Science. 351 (6271): 397–400. Bibcode:2016Sci...351..397C
Iron overload (4,580 words) [view diff] exact match in snippet view article find links to article
overload with a hereditary or primary cause, or originating from a metabolic disorder. However, the term is currently also used more broadly to refer to
Medical genetics (5,255 words) [view diff] exact match in snippet view article find links to article
amounts and only accumulates when "C" is in excess. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound "D"
Barbara Illingworth Brown (1,156 words) [view diff] exact match in snippet view article find links to article
the second known case of fructose bisphosphatase deficiency, a rare metabolic disorder, in 1970. She played a similar role in therapeutic research into glycogen
Mario Götze (6,750 words) [view diff] exact match in snippet view article find links to article
March 2017, it was reported that Götze had been suffering from a metabolic disorder. The health condition was later found out to be myopathy, a muscular
Death of Leon Patterson (1,168 words) [view diff] exact match in snippet view article find links to article
different opinion, that Patterson had died as a result of a complex metabolic disorder “resulting from drug withdrawal symptoms, dehydration and gastro-enteritis”
Body odor (4,384 words) [view diff] exact match in snippet view article find links to article
also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder where trimethylamine is released in the person's sweat, urine, and
D-glycerate dehydrogenase deficiency (635 words) [view diff] exact match in snippet view article find links to article
Hoischen A, Zenker M (Sep 2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway"
Neurapraxia (2,000 words) [view diff] exact match in snippet view article find links to article
injury including mechanical lesions, ischemia, immunologic attack, metabolic disorder, toxic agents, and exposure to radiation. The most common mechanism
Metascreen (824 words) [view diff] exact match in snippet view article find links to article
disorders for their children. As a newborn suffering from certain metabolic disorder, such as isovaleric acidemia, may appear asymptomatic in the first
Persistent organic pollutant (4,828 words) [view diff] exact match in snippet view article find links to article
associated with photosensitive skin lesions, colic, debilitation, and a metabolic disorder called porphyria turcica, which can be lethal. Mothers who pass HCB
Equine exertional rhabdomyolysis (2,643 words) [view diff] case mismatch in snippet view article find links to article
dimethylglycine. Biles, Amanda L (2015). Horse Health: Tying-Up and Azoturia, a Metabolic Disorder: Typing-Up and Azoturia are Equine Exertional Rhabdomyolysis, the
Leonurine (1,482 words) [view diff] exact match in snippet view article find links to article
including oxidative stress, inflammation, fibrosis, apoptosis, and metabolic disorder. Leonurine has demonstrated antidepressant-like action and has been
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (20,525 words) [view diff] exact match in snippet view article find links to article
cortisol in the adrenal glands. It is classified as an inherited metabolic disorder. CAH is an autosomal recessive condition since it results from inheriting
Priority review (3,432 words) [view diff] case mismatch in snippet view article find links to article
Retrieved October 8, 2021. "FDA Approves First Drug to Treat Rare Metabolic Disorder". U.S. Food and Drug Administration (Press release). November 23,
Phenylketonuria (6,160 words) [view diff] exact match in snippet view article find links to article
Amino acid metabolic disorder
Glucose (12,921 words) [view diff] exact match in snippet view article find links to article
glycosyltransferases) and can be cleaved from them by glycosidases. Diabetes is a metabolic disorder where the body is unable to regulate levels of glucose in the blood
PGM1 (2,050 words) [view diff] exact match in snippet view article find links to article
signaling kinase. Phosphoglucomutase 1 (PGM1) deficiency is an inherited metabolic disorder in humans (CDG syndrome type 1t, CDG1T). Affected patients show multiple
Escherichia coli (11,018 words) [view diff] exact match in snippet view article find links to article
demonstrated an absence of E. coli in the gut flora of subjects with the metabolic disorder Phenylketonuria. It is hypothesized that the absence of these normal
JD5037 (528 words) [view diff] exact match in snippet view article find links to article
cannabinoid-1 receptor blockers related to SLV-319 (Ibipinabant) as metabolic disorder therapeutics devoid of CNS liabilities". Bioorganic & Medicinal Chemistry
Phthalates (8,205 words) [view diff] exact match in snippet view article find links to article
conducted on mice exposed to phthalates in utero did not result in metabolic disorder in adults. However, "in a national cross-section of U.S. men, concentrations
Apolipoprotein B (4,784 words) [view diff] exact match in snippet view article find links to article
familial hypercholesterolemia, a hereditary (autosomal dominant) form of metabolic disorder hypercholesterolemia. Mice have been used as model organisms in ApoB
Folate (10,391 words) [view diff] exact match in snippet view article find links to article
vitamin B12 deficiency. Elevated MMA levels may also be due to the rare metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). Folate deficiency
BCS1L (1,917 words) [view diff] exact match in snippet view article find links to article
Suomalainen A, Peltonen L (October 2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". American
Tay–Sachs disease (6,403 words) [view diff] exact match in snippet view article find links to article
Sourander P, Svennerholm L (1966). "Tay–Sachs disease. A generalized metabolic disorder". Acta Paediatrica Scandinavica. 55 (6): 546–62. doi:10.1111/j.1651-2227
Patricia Stallings (1,396 words) [view diff] exact match in snippet view article find links to article
The Stallings case continues to be cited as an extreme case of a metabolic disorder that mimics a criminal act. List of wrongful convictions in the United
Nancy Thornberry (1,706 words) [view diff] exact match in snippet view article find links to article
Fierce Biotech. Retrieved 16 October 2017. "Kallyope to expand its metabolic disorder programme globally". Clinical Trials Arena. Retrieved 25 October 2023
Ethylene glycol poisoning (6,616 words) [view diff] exact match in snippet view article find links to article
in IV injections. Methylmalonic acidemia – an autosomal recessive metabolic disorder that mimics the effects of ethylene glycol poisoning. 1985 diethylene
Phosphoglycerate dehydrogenase (2,141 words) [view diff] exact match in snippet view article find links to article
Zenker M (September 2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway"
Osteochondritis dissecans (7,371 words) [view diff] exact match in snippet view article find links to article
medium-large breeds. In animals, OCD is considered a developmental and metabolic disorder related to cartilage growth and endochondral ossification. Osteochondritis
Human genetic enhancement (10,479 words) [view diff] exact match in snippet view article find links to article
healthy embryo for implantation, preventing the transmission of a fatal metabolic disorder in the family. Genetic human enhancement emerges as a potential frontier
Inborn errors of carbohydrate metabolism (2,783 words) [view diff] exact match in snippet view article find links to article
and blood. Mitochondrial pyruvate carrier deficiency (MPYCD) is a metabolic disorder, in which the transport of pyruvate from the cytosol to the mitochondria
Rudolf Virchow (10,333 words) [view diff] exact match in snippet view article find links to article
Virchow discovered the clinical syndrome which he called ochronosis, a metabolic disorder in which a patient accumulates homogentisic acid in connective tissues
Gerry Downes (894 words) [view diff] exact match in snippet view article find links to article
a severe muscle weakness disorder; Maple Syrup Urine Disease, a metabolic disorder that can cause severe neurological damage, and a generalized epilepsy
Causes of autism (15,799 words) [view diff] exact match in snippet view article find links to article
in 1991. Opiate theory hypothesizes that autism is the result of a metabolic disorder in which opioid peptides gliadorphin (aka gluteomorphin) and Casomorphin
Nutriepigenomics (4,722 words) [view diff] exact match in snippet view article find links to article
employed for an individual believed to be at higher risk of developing a metabolic disorder. These diets may include supplementation with methyl donors, such
Marineland of Canada (8,968 words) [view diff] exact match in snippet view article find links to article
recent (named R1) having been on July 30, 2015. Charlotte died from a metabolic disorder; the cause of death for Luna was not known. In August 2017, Gia (who
Predictive genomics (3,282 words) [view diff] exact match in snippet view article find links to article
etiology and drug targets. Type 2 diabetes (T2D), an extremely common metabolic disorder, has demonstrated interplay between many environmental and genetic
Human genetic resistance to malaria (9,634 words) [view diff] exact match in snippet view article find links to article
also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase. In this condition, a lack of pyruvate
Poisoning of Alexei Navalny (14,294 words) [view diff] exact match in snippet view article find links to article
Although doctors in Russia initially suggested he suffered from a metabolic disorder caused by low blood sugar, they later stated that he had most likely
Nutritional neuroscience (15,345 words) [view diff] exact match in snippet view article find links to article
excess copper in drinking water, or as the result of an inherited metabolic disorder in the case of Wilson's disease. A significant portion of the toxicity
Human disease modifier gene (4,334 words) [view diff] exact match in snippet view article find links to article
for the course of this emerging evidence. Characterization of the metabolic disorder, phenylketonuria (PKU) represents a progression from an initial biochemical
Specialty drugs in the United States (9,033 words) [view diff] exact match in snippet view article find links to article
drug, Strensiq. It will be used to treat hypophosphatasia, a rare metabolic disorder. In 2015 Alexion estimated that Synageva, its specialty drug for lysosomal
M. Daria Haust (1,379 words) [view diff] exact match in snippet view article find links to article
Abdelnour GM; Haust MD (December 28, 1968). "Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study". Can Med
Alzheimer's disease in the Hispanic/Latino population (6,149 words) [view diff] exact match in snippet view article find links to article
In the United States, 33% of the total population suffers from a metabolic disorder (i.e. diabetes and hypertension). Hispanic and Latino adults are at