ZFIN Human Disease: 3-methylcrotonyl-CoA carboxylase deficiency

OBO ID: DOID:0050710

Term Name:	3-methylcrotonyl-CoA carboxylase deficiency		Search Ontology:
Synonyms:	3-Methylcrotonylglycinuria 3MCC deficiency BMCC deficiency
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. (2)
References:	GARD:10954 OMIM:PS210200 ORDO:6
Ontology:	Human Disease ( DOID:0050710 )

Relationships

is a type of:	amino acid metabolic disorder autosomal recessive disease muscular disease amino acid metabolic disorder autosomal recessive disease muscular disease Show first 5 Terms
has subtype:	3-Methylcrotonyl-CoA carboxylase 1 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-Methylcrotonyl-CoA carboxylase 1 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None