Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.
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.
Baumgartner
M R
MR
Department of Pediatrics, Hôpital Necker-Enfants Malades, Paris, France.
Jansen
G A
GA
Verhoeven
N M
NM
Mooyer
P A
PA
Jakobs
C
C
Roels
F
F
Espeel
M
M
Fourmaintraux
A
A
Bellet
H
H
Wanders
R J
RJ
Saudubray
J M
JM
D002648:Child; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D006899:Mixed Function Oxygenases / Q000378:metabolism*; D010831:Phytanic Acid / Q000378:metabolism*; D010875:Pipecolic Acids / Q000378:metabolism*; D012035:Refsum Disease / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*
D010875:Pipecolic Acids; D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human