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Disease Ontology Browser
3-Methylcrotonyl-CoA carboxylase deficiency (DOID:0050710)
Alliance: disease page
Synonyms: 3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency
Alt IDs: OMIM:210200, OMIM:210210
Definition: An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing 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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory