Von Gierke Disease Lifespan | Glycogen Storage Disease Type I Life Expectancy

Von Gierke Disease Lifespan | Glycogen Storage Disease Type I Life Expectancy

Von Gierke Disease have first described by Doctor Edgar von Gierke in year 1929. This disease is the first described glycogen storage disease also. With it, this disease is the most common glycogen storage disorder. The cause of this disease is glucose-6-phosphatase enzyme deficiency. For this reason, glycogen cannot break down in whole body.

Von Gierke Disease genetics:

This disease is transferred by autosomal recessive inheritance. Because of autosomal recessive inheritance this disease is more common in consanguineous marriage. If the both parents are gene carriers, 1 of 4 children will diseased. The half from the children will carry the diseased gene like his parents and they will healty. The 1/4 part will not have the defective gene also.

Mutations in G6PC, G6PC2, and G6PC3 genes on chromosome 11 are the most common mutations that cause to this disease. SLC37A4 gene mutation on chromosome 17 is an other mutation that cause to this disease also.

Von Gierke Disease symptoms:

  • The primary problem that cause to all symptoms is hypoglycemia. In early infancy period growth retardation will develop because hypoglycemia also. Fasting blood glucose concentration will seen less than 60 mg/dL.
  • Glycogen can not broken down in these patients. For this reason, large quantity glycogen will store in liver, muscles, kidneys and intestinal mucosal cells.
  • Elevated liver enzymes like AST and ALT and jaundice can seen.
  • Pulmonary hypertension and systemic hypertension may seen also.
  • Hyperlipidemia is common also. Blood triglyceride and cholesterol level will seen elevated. Pancreatitis can develop due to hypertriglyceridemia.
  • Galactose, fructose, and glycerol will used for energy in the body cells. Because of it, lactic acidosis will develop also.
  • Clinical gout may develop due to uric acid level elevation.
  • Then, hypoglycemia and lactic acidosis may cause to convulsions in early infancy period. Hypoglycemia symptoms like irritability, cyanosis, hypotonia, tremors, loss of consciousness, and apnoea will seen also.
  • Due to glycogen accumulation in intestinal mucosal cells diarrhea can see also.
  • Growth and height retardation is common, that below the third centile.
  • Delayed pubertal development may seen.
  • Platelet function defects may seen. With it, nose bleeding is common.
  • Mouth ulcers and infections may seen.
  • Osteoporosis is common.
  • Eruptive xanthomas may seen on skin and mucous membranes.
  • Abdominal distention and liver enlargement, hepatomegaly may develop also.
  • Renal glomerular hypertrophy and glomerulosclerosis may seen in ultrasound also.

Von Gierke Disease diagnosis:

For definitive diagnosis, decreased glucose-6-phosphatase activity in fresh liver tissue must seen. With it, in this liver specimen glycogen and fat infiltrasyon can seen also.

Von Gierke Disease treatment:

The goal for treatment is correcting hypoglycemia and maintaining normoglycemia. In infants nasogastric tube feeding may necessary. At the night on sleeping period, feeding must continue from nasogastric tube. Fructose and galactose intake should be restricted. Contact sports should avoided because of the bleeding tendency.

Because of bleeding, iron deficiency may develop in these patients. For this reason, using of iron containing drugs is helpful.

Allopurinol is beneficial for protecting from gout attacks and hyperuricemia. This drug is saver against kidney diseases and pyelonephritis.

Human granulocyte colony-stimulating factor (G-CSF) can use for treating recurrent infections.

In necessary cases such as hepatocellulary cancer liver transplantation can performed.

Von Gierke Disease life expectancy:

Improving care and treatment have reduced early mortality rate. With it, these patients can die because any secondary diseases like hepatocellular cancer, renal impairment or some infections. These patients can live up to 35-40 years of age, only with good support and treatment.

Successful pregnancies have reported in literatures.

This disease will usually not affect the mental state.

 

To read about Niemann Pick Disease click this link

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Von Gierke Disease life expectancy | Von Gierke Disease Lifespan
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Von Gierke Disease life expectancy | Von Gierke Disease Lifespan
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Improving care and treatment have reduced early mortality rate. With it, these patients can die because any secondary diseases like hepatocellular cancer, renal impairment or some infections. These patients can live up to 40 years of age, only with good support and treatment.
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