Glycogen storage disease type VI

Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). Affected individuals may also have low blood sugar (hypoglycemia) or a buildup of lactic acid in the body (lactic acidosis) during prolonged periods without food (fasting).The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.

Different Conditions

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Related ICD 10 COde
ICD 10 Code E74.1

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Disorders of carbohydrate metabolism

This refers to disorders of the metabolism of fructose in the phosphorylation of fructose to fructose 1-phosphate by fructokinase, thus trapping fructose for metabolism in the liver.

Causes

Fructose metabolism disorder (disorder)
Related ICD 10 COde
ICD 10 Code E74.1

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Disorders of fructose metabolism

Fructosuria is generally asymptomatic. It is caused by a deficiency in hepatic fructokinase, an enzyme involved in the catabolism of fructose. This anomaly leads to abnormally elevated levels of fructose in the blood after ingestion of fructose, sucrose or sorbitol. This excess fructose is then excreted in the urine. The mode of transmission is autosomal recessive.

Abbreviated Terms

  • fructosuria
  • essential benign fructosuria
  • Also Known As

  • Ketohexokinase deficiency
  • Fructokinase deficiency
  • Benign fructosaemia
  • essential fructosemia
  • hepatic fructokinase deficiency
  • Related ICD 10 COde
    ICD 10 Code E74.1

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