Symptoms and Signs of Von Gierke disease

Creator: Dr. Nithin Jayan
Keywords: Von Gierke disease Symptoms Signs, Type I glycogen storage disease Symptoms Signs, GSD 1 Symptoms Signs, type 1a glycogen storage disease Symptoms Signs, Type Ib glycogen storage disease Symptoms Signs, GSD 1a Symptoms Signs, GSD1b Symptoms Signs, lactic acidosis, hepatomegaly, large liver, doll-like faces, nose bleeding, easy bruising, recurrent infections children, intermittent diarrhoea

Author - Dr. Nithin Jayan, MBBS, DNB

Medically Reviewed by dr. simi paknikar, MD on Apr 22, 2013

Symptoms and Signs

Clinical presentation of Von Gierke disease is usually soon after birth but can be a little later.

Features of neonatal hypoglycemia (low blood sugar) occur shortly after birth. Symptoms include:

Tremors
Irritability
Cyanosis: A bluish discolouration of the skin and mucous membranes
Seizures
Apnea: Transient cessation of respiration
Coma: A state of deep and often prolonged unconsciousness

Von Gierke disease can also present as lactic acidosis during the neonatal period. Lactic acidosis is a condition characterised by the accumulation lactic acid in the blood stream. It can also produce convulsions (seizures).

Abnormal enlargement of the liver (hepatomegaly) occurs by 3-4 months of age. Children with Von Gierke Disease usually have doll-like faces with fat cheeks, relatively thin extremities, short stature, and a protuberant abdomen that is due to massive hepatomegaly.

A short fast can lead to low blood glucose levels and lactic acidosis.

Easy bruising and nose bleeding can occur due abnormalities with platelets (specialized cells required for blood clotting). Recurrent infections due to bacteria and oral ulcers are common in type 1b patients. Patients with Von Gierke disease can also develop intermittent diarrhea that worsens with age.

Reference:

Harrison�s Principles of Internal Medicine 18^thEdition
The Merck Manual
Nelson Textbook of Pediatrics. 18th ed.
Cecil Medicine 24^thEdition

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Symptoms and Signs of Von Gierke disease