Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.
case_report · Level V
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Abstract
We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size. These abnormal peroxisomes lacked catalase as did peroxisomes in fibroblasts of this patient. Such generalized peroxisomal abnormalities are not present in classic Refsum disease.
Medical subject headings
- Metabolism, Inborn Errors
- Mixed Function Oxygenases
- Phytanic Acid
- Pipecolic Acids
- Refsum Disease