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07:50

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Published on: September 20, 2018

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency

Emily Helen Smith1, Dimitar K Gavrilov, Devin Oglesbee

  • 1Biochemical Genetics Laboratory - Hilton 3-10-02, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. smith.emily1@mayo.edu

Journal of Inherited Metabolic Disease
|September 8, 2010
PubMed

Insights

Alpha-Methyl-acyl-CoA-racemase (AMACR) deficiency is a rare genetic disorder. Dietary pristanic acid restriction helped a 45-year-old patient with AMACR deficiency achieve remission from relapsing encephalopathy.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Alpha-Methyl-acyl-CoA-racemase (AMACR) deficiency is a rare peroxisomal disorder.
  • It presents with a variable age of onset, from infancy to late adulthood.

Observation:

  • A 45-year-old male with a history of seizures experienced relapsing encephalopathy.
  • Laboratory findings included elevated serum pristanic acid and a high pristanic/phytanic acid ratio.
  • A homozygous mutation (c.154T>C) in the AMACR gene confirmed the diagnosis.

Findings:

  • The identified homozygous mutation in AMACR is linked to a spectrum of phenotypes.
  • These phenotypes range from neonatal cholestasis to late-onset sensorimotor neuropathy.

Implications:

  • Dietary restriction of pristanic acid was implemented as a therapeutic strategy.
  • The patient achieved and maintained remission for over 16 months, suggesting treatment efficacy.

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