methylcrotonoyl-CoA carboxylase deficiency
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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
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/210200
- ↑ van Hove JL et al 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency J Inherit Metab Dis. 1995;18(5):592-601. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8598640
- ↑ Baumgartner M Orphanet: 3-Methylcrotonyl-CoA carboxylase deficiency http://www.orpha.net/data/patho/GB/uk-MCC.html