HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors; D000594:Amino Acid Oxidoreductases; D001769:Blood; D001774:Blood Chemical Analysis; D002555:Cerebrospinal Fluid; D002648:Child; D002653:Child Behavior Disorders; D004796:Clinical Enzyme Tests; D003241:Consanguinity; D005826:Genetics, Medical; D006801:Humans; D006909:Hydroxyproline; D008607:Intellectual Disability; D008659:Metabolic Diseases; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency; D035583:Rare Diseases; D014149:Tranquilizing Agents; D014556:Urine
D014149:Tranquilizing Agents; D000594:Amino Acid Oxidoreductases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C034575:hydroxyproline oxidase; D006909:Hydroxyproline
ADOLESCENCE; AMINO ACID METABOLISM, INBORN ERRORS; AMINOACID OXIDOREDUCTASES; BLOOD; BLOOD CHEMICAL ANALYSIS; CEREBROSPINAL FLUID; CHILD BEHAVIOR DISORDERS; CONSANGUINITY; ENZYME TESTS; GENETICS, HUMAN; HYDROXYPROLINE; MENTAL RETARDATION; TRANQUILIZING AGENTS; URINE