Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Disease data Classification Disease Synonyms CDG syndrome type It CDG1t CDG-It Zespół CDG typu It CDG-It CDG1T Congenital disorder of glycosylation type 1t Congenital disorder of glycosylation type It PGM1-related congenital disorder of glycosylation Phosphoglucomutase-1 deficiency ORPHA code 319646 OMIM code 614921 ICD10 code E77.8 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