Abstract
α-Methyl-Acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months.
Original language | English (US) |
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Pages (from-to) | S349-S353 |
Journal | Journal of inherited metabolic disease |
Volume | 33 |
Issue number | SUPPL. 3 |
DOIs | |
State | Published - Dec 2010 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)