Glycogen storage disease type Ia

Glycogen storage disease type Ia is an inherited autosomal recessive metabolic disorder caused by a deficiency of the catalytic subunit of glucose-6-phosphatase

Glycogen storage disease type Ia is an inherited autosomal recessive metabolic disorder caused by a deficiency of the catalytic subunit of glucose-6-phosphatase This enzymatic defect impairs both glycogenolysis and gluconeogenesis, primarily affecting the liver and kidneys through excessive intracellular accumulation of glycogen and fat Typically presenting in early infancy with fasting intolerance, hallmark clinical features include severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hy...

This enzymatic defect impairs both glycogenolysis and gluconeogenesis, primarily affecting the liver and kidneys through excessive intracellular accumulation of glycogen and fat Typically presenting in early infancy with fasting intolerance, hallmark clinical features include severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hypertriglyceridemia, and hyperuricemia Over time, chronic disease may lead to complications such as growth impairment, hepatic adenomas, osteoporosis, and progres...

Over time, chronic disease may lead to complications such as growth impairment, hepatic adenomas, osteoporosis, and progressive renal dysfunction