title: Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome.
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.
mesh_terms: 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
chemical_list: D010875:Pipecolic Acids; D015074:2-Aminoadipic Acid; D008239:Lysine