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METABOLIC DISORDER
| Pronunciation (US): |  | (GB): | |
I. (noun)
Sense 1
Meaning:
A disorder or defect of metabolism
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("metabolic disorder" is a kind of...):
disorder; upset (a physical condition in which there is a disturbance of normal functioning)
Hyponyms (each of the following is a kind of "metabolic disorder"):
alcaptonuria; alkaptonuria (a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine)
inborn error of metabolism (any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism)
lipidosis (a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body)
lysine intolerance (a disorder in which a lack of certain enzymes makes it impossible to digest the amino acid lysine)
hyperlipoproteinemia (any of various disorders of lipoprotein and cholesterol metabolism that result in high levels of lipoprotein and cholesterol in the circulating blood)
hypolipoproteinemia (any of various disorders of lipoprotein and cholesterol metabolism that result in low levels of lipoprotein and cholesterol in the circulating blood)
Context examples:
A metabolic disorder that affects the phosphate homeostasis.
(Phosphorus Metabolic Disorder, NCI Thesaurus)
An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum.
(Ornithine Carbamoyltransferase Deficiency Disease, NCI Thesaurus)
An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene.
(Oculocerebrorenal Syndrome, NCI Thesaurus)
A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes.
(Multiple Acyl-CoA Dehydrogenase Deficiency, NCI Thesaurus)
A rare metabolic disorder that affects neonates.
(Neonatal Adrenoleukodystrophy, NCI Thesaurus)
A metabolic disorder characterized by abnormal blood glucose levels.
(Glucose Metabolism Disorder, NCI Thesaurus)
An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC genes.
(Glycine Encephalopathy, NCI Thesaurus)
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes.
(Cystinuria, NCI Thesaurus)
An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes.
(Galactosemia, NCI Thesaurus)
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase.
(Cytochrome-C Oxidase Deficiency, NCI Thesaurus)
