Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. Disease data Classification Disease Synonyms Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency Niedobór dehydrogenazy delta 1-pirolino-5-karboksylanu ORPHA code 79101 OMIM code 239510 ICD10 code E72.5 ICD11 code - *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