Glycogen Storage Disease Type I (GSD-I) | Von Gierke Disease

Symptoms and signs of GSD-I

After birth, symptoms start to appear after three or four months.

Symptoms due to glycogen deposition

Accumulation of glycogen in the liver leads to decreased blood glucose levels. Hypoglycemia is the main symptom of GSD-I.

Children with hypoglycemia complain from:

• Tremors: involuntary muscle contractions
• Seizures: involuntary muscle shaking then loss of consciousness
• Cyanosis: bluish discoloration of the skin and mucous tissue
• Apnea: Cessation of breathing
• Growth retardation
• Delayed puberty
• Muscle weakness
• Sleep difficulties
• Overwhelming hunger

Patients have special characters as a doll-like face, protuberant abdomen, thin extremities, and short stature.

Symptoms due to deposition of other metabolites:

• Xanthomas: Yellow nodule due to deposition of fat under the skin
• Gout: painful arthritis due to accumulation of uric acid in the joints
• Osteoporosis: Fragile bones that are labile to repeated fractures
• Lactic acidosis: lactic acid accumulation in the blood

Mutation of the genes leads to impairment of platelets function, causes bleeding tendency and epistaxis (nose bleeding). Also, it may lead to iron deficiency anemia.

GSDIb leads to impairment of neutrophils and monocyte functions, which leads to impaired immunity and recurrent infection.