What is type 1B glycogen storage disease?

Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body.

How do you confirm von Gierke disease?

Tests that may be done include:

1. Biopsy of liver or kidney.
2. Blood sugar test.
3. Genetic testing.
4. Lactic acid blood test.
5. Triglyceride level.
6. Uric acid blood test.

What is von Gierke Pompe?

Glycogen storage disease type I Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose homeostasis.

Who is von Gierke?

Edgar Otto Conrad von Gierke (9 February 1877, Breslau – 21 October 1945, Karlsruhe) was a German Jewish pathologist who specialized in glycogenesis and discovered glycogen storage disease type I (formerly known as von Gierke disease) in 1929.

What is von Gierke disease caused by?

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells.

Why is there ketosis in von Gierke’s disease?

It is caused by a deficiency of the enzyme liver phosphorylase. Hers disease is characterized by enlargement of the liver (hepatomegaly), moderately low blood sugar (hypoglycemia), elevated levels of acetone and other ketone bodies in the blood (ketosis), and moderate growth retardation.

Why does von Gierke’s cause ketosis?

Why is there ketosis in von Gierke disease?

What is the most common glycogen storage disease?

Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases. Type II (Pompe’s disease, acid maltase deficiency)

What kind of disease is von Gierke disease?

Type 1 glycogen storage disease (GSD1) is an autosomal recessive disorder that was first described in 1929 by E. von Gierke as a “hepato-nephromegalia glycogenica”. For this reason the disease is still more commonly referred to von Gierke disease.

What causes Type Ia and Type Ib in von Gierke?

Glucose-6-phosphatase deficiency is the cause of type Ia and should not be confused with glucose-6-phosphate dehydrogenase deficiency. There is a specific translocase deficiency in type Ib. Individuals with type lb also have altered neutrophil function predisposing them to Gram-positive bacterial infections.

How is Pi transported in von Gierke disease?

The released phosphate (Pi) is transported out of the lumen of the ER to the cytosol by the Na+-phosphate transporter 4 (NPT4) protein encoded by the SLC17A3 gene. Type 1 glycogen storage disease (GSD1) is an autosomal recessive disorder that was first described in 1929 by E. von Gierke as a “hepato-nephromegalia glycogenica”.

When does von Gierke’s glycogen storage disease occur?

Presentation is usually soon after birth but can be a little later. Shortly after birth, hypoglycaemia and lactic acidosis often cause convulsions. More moderate hypoglycaemia can cause irritability, pallor, cyanosis, hypotonia, tremors, loss of consciousness, and apnoea. Some children have diarrhoea due to pseudo-colitis.