Glycogen storage disease type I

Glycogen storage disease type I (GSD I) is a inherited disease. In this disorder, the liver being unable to properly break down stored glycogen.

Alternate names

GSD1; Glycogen storage disease 1A; Von Gierke disease; Glycogenosis type 1; Hepatorenal form of glycogen storage disease; Glucose-6-phosphatase deficiency; Hepatorenal glycogenosis; Glucose-6-phosphatase deficiency glycogen storage disease See Less

Clinical features

Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

Types

These types are known as glycogen storage disease type IA and glycogen storage disease type IB.

Cause

Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene.

Inheritance

This condition is inherited in an autosomal recessive pattern.

Characteristics

Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures.

Symptoms

80%-99% of people have these symptoms

• Cognitive impairment
• Hyperlipidemia
  • Hyperuricemia

• Hypoglycemia

• Muscular hypotonia

• Recurrent respiratory infections

• Seizure

• [[Short stature

5%-29% of people have these symptoms

• Xanthomatosis

Less common symptoms

Autosomal recessive

• Abnormal bleeding

• Autosomal recessive inheritance

• Decreased glomerular filtration rate

• Decreased muscle mass

• Delayed puberty

• Doll-like facies

• Elevated hepatic transaminase

• Enlarged kidney

• Focal segmental glomerulosclerosis

• Gout

• Hepatocellular carcinoma

• Hepatomegaly

• Hypertension

• Intermittent diarrhea

• Lactic acidosis

• Lipemia retinalis

• Nephrolithiasis

• Osteoporosis

• Pancreatitis

• Proteinuria

• Protuberant abdomen

• Xanthelasma

Diagnosis

• Making a diagnosis for a genetic or rare disease can often be challenging.
• Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis.

Genetic Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition

Treatment

Treatment is supportive care as there is no cure.

Complications / course

• Untreated children typically have doll-like faces with fat cheeks and relatively thin extremities.
• Xanthoma and diarrhea may be present.
• Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem.

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Latest articles - Glycogen storage disease type I

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Glycogen storage disease type I on Wikipedia

• Wikipedia's article on Glycogen storage disease type I

NIH genetic and rare disease info

• NIH info on Glycogen storage disease type I

Glycogen storage disease type I is a rare disease.

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