Abstract
An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of pipecolic acid. When given a loading dose of DL-pipecolic acid hydrochloride, she showed a reduced clearance rate for that acid. Piperidine, delta 6-piperidine-2-carboxylic acid, and alpha-aminoadipic acid were not detected in plasma or urine. Her response to a lysine load was comparable to that of controls. These data provide further evidence of the connection between hyperpipecolic acidemia and CHRS.
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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2-Aminoadipic Acid / blood
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Abnormalities, Multiple / blood*
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Bone Diseases / blood*
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Bone Diseases / complications
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Bone and Bones / abnormalities
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Facial Asymmetry / complications
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Female
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Humans
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Hypoprothrombinemias / complications
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Infant
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Jaundice / complications
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Kidney Diseases / blood*
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Kidney Diseases / complications
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Kidney Diseases, Cystic / complications
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Liver Diseases / blood*
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Liver Diseases / complications
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Lysine / metabolism
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Muscle Hypotonia / complications
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Pipecolic Acids / blood*
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Skull / abnormalities*
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Syndrome
Substances
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Pipecolic Acids
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2-Aminoadipic Acid
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Lysine