RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
3-MCC deficiency; 3-Methylcrotonyl-Coenzyme A carboxylase deficiency; 3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency; Deficiency of Methylcrotonoyl-Coa Carboxylase; MCC deficiency; Methylcrotonyl-Coa carboxylase deficiency