Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity). Disease data Classification Disease Synonyms Proline oxidase deficiency Niedobór oksydazy prolinowej ORPHA code 419 OMIM code 239500 ICD10 code E72.5 ICD11 code 5C50.8 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl