Glycogen Storage Disease

Glycogen storage diseases (GSD) are inherited enzyme defects of glycogen synthesis or breakdown, causing abnormal glycogen accumulation. Major types: type I (von Gierke: severe hypoglycemia, hepatomegaly, lactic acidosis, hyperlipidemia), type II (Pompe: cardiomegaly/myopathy, lysosomal alpha-glucosidase), type III (Cori/Forbes: debrancher deficiency), type V (McArdle: muscle phosphorylase, exercise intolerance). Treatment: frequent cornstarch meals (type I), enzyme replacement (Pompe), avoid fasting/exercise triggers, supportive care.

Common Symptoms

Hypoglycemia; hepatomegaly; myopathy/exercise intolerance; cardiomegaly (Pompe); growth retardation; lactic acidosis/hyperlipidemia

Causes and Pathogenesis

Defective glycogen-metabolism enzymes cause glycogen accumulation in liver/muscle/heart and impaired glucose release.

Treatment

Frequent meals/cornstarch; avoid fasting; enzyme replacement therapy for Pompe; muscle-directed care; liver transplant in selected

Preventive Measures

Genetic counseling; newborn screening; careful metabolic management during illness/fasting.

Department to Visit

It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.