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Echinobase
Summary Literature (0)
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


OMIM:
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)