congenital disorder of glycosylation It

A congenital disorder of glycosylation I that is 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

A congenital disorder of glycosylation I that is 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 and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.

Signs and symptoms

• Elevated circulating alanine aminotransferase concentration
• Hypoglycemia
• Elevated circulating hepatic transaminase concentration
• Elevated circulating aspartate aminotransferase concentration
• Growth delay
• Short stature
• Cleft palate
• Elevated circulating creatine kinase activity
• Bifid uvula
• Tachycardia

Also known as: congenital disorder of glycosylation 1t