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methylcrotonoyl-CoA carboxylase deficiency

Pathology: - disorder of leucine metabolism - secondary carnitine deficiency from organic aciduria (see laboratory), may be severe Genetics: - autosomal recessive - associated with defects in MCCC1 (type 1), MCCC2 (type 2) Clinical manifestations: - phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults Laboratory: - characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid & 3-methylcrotonylglycine - serum 3-hydroxyisovalerylcarnitine - urine 3-hydroxyisovalerylcarnitine

Related

methylcrotonoyl CoA carboxylase

General

amino acid inborn error of metabolism

Database Correlations

OMIM correlations

References

  1. OMIM :accession 210200
  2. van Hove JL et al 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency J Inherit Metab Dis. 1995;18(5):592-601. PMID: 8598640
  3. Baumgartner M Orphanet: 3-Methylcrotonyl-CoA carboxylase deficiency http://www.orpha.net/data/patho/GB/uk-MCC.html