3-methylcrotonyl-CoA carboxylase 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.

• [1]
• [2]

Synonyms

• 3-Methylcrotonylglycinuria
• 3MCC deficiency

Show All 3

Cross References

• GARD:10954
• MIM:PS210200

Show All 3

Parent Terms

• amino acid metabolic disorder
• autosomal recessive disease

Show All 3

Child Terms

• 3-methylcrotonyl-CoA carboxylase 1 deficiency
• 3-methylcrotonyl-CoA carboxylase 2 deficiency

Sources of Associations

• RGD
• MGI
• ZFIN
• FB
• WB
• SGD

Associated Genes

Associated Alleles

Associated Models