Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear. Disease data Classification Disease Synonyms Isolated SHPK deficiency Izolowany Niedobór SHPK ORPHA code 440713 OMIM code 617213 ICD10 code E88.8 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