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DOID:0050710 - 3-methylcrotonyl-CoA carboxylase deficiency
Disease Ontology Definition:An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
Synonyms: 3-Methylcrotonylglycinuria, 3MCC deficiency, BMCC deficiency,
Echinobase Genes
:
mccc1
| MIM:210200 - 3-@methylcrotonyl-coa carboxylase 1 deficiency |
| MIM:210210 - 3-@methylcrotonyl-coa carboxylase 2 deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a),
autosomal recessive disease (is_a),
muscular disease (is_a)