Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.

Abstract

This report describes a patient with high serum phytanic acid concentration due to phytanic acid alpha-oxidase deficiency (classical Refsum disease). He presented unusually early, hypotonia and developmental delay being apparent by 7 months. A generalized peroxisomal disorder (so-called 'infantile Refsum disease') was excluded by analyses of pristanic acid, very long-chain fatty acids, bile acids and plasmalogen synthesis. The early presentation raises the possibility of in utero exposure to phytanate.

• Authors: M A Herbert, P T Clayton
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 17 Issue 2 Pg. 211-4 ( 1994) ISSN: 0141-8955 [Print] United States
• PMID: 7526031 (Publication Type: Case Reports, Journal Article)

Chemical References

• Phytanic Acid
• Mixed Function Oxygenases
• phytanic acid alpha-oxidase

Topics

• Gas Chromatography-Mass Spectrometry
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Mixed Function Oxygenases (deficiency, genetics)
• Muscular Diseases (genetics)
• Phytanic Acid (blood)
• Refsum Disease (blood, diet therapy, genetics)
• Tomography, X-Ray Computed