Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.
A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.
Roesel
R A
RA
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912.
Carroll
J E
JE
Rizzo
W B
WB
van der Zalm
T
T
Hahn
D A
DA
D001848:Bone Diseases, Developmental / Q000378:metabolism*; D002648:Child; D004392:Dwarfism / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism*; D008297:Male; D008830:Microbodies / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood; D010875:Pipecolic Acids / Q000097:blood / Q000378:metabolism* / Q000652:urine; D010955:Plasmalogens / Q000096:biosynthesis; D013577:Syndrome
D005227:Fatty Acids; D010875:Pipecolic Acids; D010955:Plasmalogens; D010831:Phytanic Acid; C031345:pipecolic acid