3-methylcrotonyl-CoA carboxylase deficiency

Term ID

DOID:0050710

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
MIM: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

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models