Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms. Disease data Klasyfikacja Disease Synonimy Hyperlysinemia type II Hiperlizynemia typu II Niedobór dehydrogenazy sacharopiny Saccharopine dehydrogenase deficiency Kod ORPHA 3124 Kod OMIM 268700 Kod ICD10 E72.3 Kod ICD11 5C50.4 *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