Preferred Label : Molybdenum cofactor deficiency, type a;
Symbol : MOCODA;
CISMeF acronym : MOCODA;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency
of; Molybdenum cofactor deficiency, complementation group a;
Description : Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder
characterized by onset in infancy of poor feeding, intractable seizures, and severe
psychomotor retardation. Characteristic biochemical abnormalities include decreased
serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency
of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of
which use molybdenum as a cofactor. Most affected individuals die in early childhood
(summary by Reiss, 2000; Reiss et al., 2011). - Genetic Heterogeneity of Molybdenum
Cofactor Deficiency See also MOCOD, complementation group B (MOCODB; 252160), caused
by mutation in the MOCS2 gene (602708) on chromosome 5q11; and MOCOD, complementation
group C (MOCODC; 615501), caused by mutation in the GPHN gene (603930) on chromosome
14q24.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the molybdenum cofactor synthesis gene 1 (MOCS1, 603707.0001);
Laboratory abnormalities : Decreased xanthine dehydrogenase activity; Decreased sulfite oxidase activity; Hypouricemia; Molybdenum cofactor deficiency; Increased urinary hypoxanthine; Increased urinary taurine; Increased urinary S-sulfocysteine; Xanthine stones; Increased urinary xanthine;
Prefixed ID : #252150;
Origin ID : 252150;
UMLS CUI : C1854988;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT