Abstract
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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Bone Diseases, Developmental / metabolism*
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Child
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Dwarfism / metabolism*
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Fatty Acids / metabolism
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Fibroblasts / metabolism
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Humans
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Intellectual Disability / metabolism*
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Male
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Microbodies / metabolism*
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Phytanic Acid / blood
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Pipecolic Acids / blood
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Pipecolic Acids / metabolism*
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Pipecolic Acids / urine
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Plasmalogens / biosynthesis
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Syndrome
Substances
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Fatty Acids
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Pipecolic Acids
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Plasmalogens
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Phytanic Acid
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pipecolic acid