Glycogen storage diseases (GSD) comprises of a series of rare genetic disorders of glycogen metabolic processes and the enzymatic system. Therefore, glycogen cannot be metabolized to glucose in the liver. GSDs are characterised by abnormally inherited glycogen metabolism in the liver, muscle, and brain.
Various endocrines (hormones), such as insulin, glucagon, and hydrocortisone influence the relationship of glycolysis (Glycolysis is the set of reactions that converts glucose into energy), gluconeogenesis (the synthesis glucose, from carbon substrates such as pyruvate, lactate, glycerol, and glucogenic amino acids) and glycogen synthesis.
HEPATIC
The general GSD occurrences are estimated at something like 1 case per 0000 babies. Currently there are about a dozen subtypes and they are categorised based on the enzyme insufficiency and the involved organs. Disorders of glycogen degradation or Hers Disease could strike mainly the liver, the muscles and/or both.
Type Ia affects the liver, kidney and the intestine while Ib effects the leukocytes. Some clinical manifestations and complications include hepatomegaly, hypoglycaemia, hyperlactatemia, hyperuricemia and hyperlipaemia (high levels of cholesterol).
Type II is a paradigm of inborn lysosomal storage diseases and affects several organs but mainly the musculus.
Type IIIa affects both the liver and muscle, and IIIb exclusively the liver. The liver symptoms commonly improve with with gowth.
Type IV generally exhibits in the 1st year of lifespan, with megalohepatia and development and mental retardation. The disease in at-large is advancing leading to cirrhosis of the liver.
Type VI and IX are a heterogenous group of diseases stimulated by a lack of the liver phosphorylase and phosphorylase kinase system. There is no hyperuricemia or hyperlactatemia.
Type XI is mainly characterised by hepatic glycogenosis and renal Fanconi syndrome.
Types V and VII involve only the muscle.
Types of glycogen storage disease;
Type I (Von Gierke disease) the most common type of glycogen storage disease accounting for nearly all 990%) of all glycogen storage disease reports
Type II (Pompe's disease, acid maltase deficiency)
Type III (Cori's disease)
Type IV (Andersen's disease)
Type V (McArdle's disease)
Type VI (Hers' disease)
Type VII (Tarui's disease)
Type VIII
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