Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome.
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.
D015074:2-Aminoadipic Acid / Q000097:blood; D000015:Abnormalities, Multiple / Q000097:blood*; D001847:Bone Diseases / Q000097:blood* / Q000150:complications; D001842:Bone and Bones / Q000002:abnormalities; D005146:Facial Asymmetry / Q000150:complications; D005260:Female; D006801:Humans; D007020:Hypoprothrombinemias / Q000150:complications; D007223:Infant; D007565:Jaundice / Q000150:complications; D007674:Kidney Diseases / Q000097:blood* / Q000150:complications; D052177:Kidney Diseases, Cystic / Q000150:complications; D008107:Liver Diseases / Q000097:blood* / Q000150:complications; D008239:Lysine / Q000378:metabolism; D009123:Muscle Hypotonia / Q000150:complications; D010875:Pipecolic Acids / Q000097:blood*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D010875:Pipecolic Acids; D015074:2-Aminoadipic Acid; D008239:Lysine