Glycogen storage disease type I physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Clinical manifestations result, directly or indirectly, from

1. inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
2. organ changes due to glycogen accumulation;
3. excessive lactic acid generation;
4. damage to tissue from hyperuricemia;
5. in GSD Ib, bleeding and infection risk from blood cell effects.

Physical Exmaination

• Physical examination of patients with glycogen storage disease type 1 is usually remarkable for: protruding abdomen due to marked hepatomegaly , short stature, doll-like facial appearance, truncal obesity, and wasted muscles.

Appearance of the Patient

• Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks.

Skin

Signs due to hypoglycemia include:

• Paleness
• Sweating

HEENT

• Epistaxis may be present

Lungs

Signs due to hypoglycemia include:

• Hyperventilation
• Apnea

Abdomen

• Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)

Neuromuscular

Signs due to hypoglycemia in infants include:

• Tremors
• Irritability
• Convulsions

Older infants show signs including:

• Frequent lethargy
• Difficult arousal from sleep
• Tremors

Extremities

• Cyanosis
• Growth retardation
• Relatively thin extremities.