Glycogen Storage Diseases

Glycogen storage diseases (GSD) comprises of amanifestations and complications include
series of rare genetic disorders of glycogen metabolichepatomegaly, hypoglycaemia, hyperlactatemia,
processes and the enzymatic system. Therefore,hyperuricemia and hyperlipaemia (high levels of
glycogen cannot be metabolized to glucose in thecholesterol).
liver. GSDs are characterised by abnormally inheritedType II is a paradigm of inborn lysosomal storage
glycogen metabolism in the liver, muscle, and brain.diseases and affects several organs but mainly the
Various endocrines (hormones), such as insulin,musculus.
glucagon, and hydrocortisone influence the relationshipType IIIa affects both the liver and muscle, and IIIb
of glycolysis (Glycolysis is the set of reactions thatexclusively the liver. The liver symptoms commonly
converts glucose into energy), gluconeogenesis (theimprove with with gowth.
synthesis glucose, from carbon substrates such asType IV generally exhibits in the 1st year of lifespan,
pyruvate, lactate, glycerol, and glucogenic aminowith megalohepatia and development and mental
acids) and glycogen synthesis.retardation. The disease in at-large is advancing
The general GSD occurrences are estimated atleading to cirrhosis of the liver.
something like 1 case per 0000 babies. CurrentlyType VI and IX are a heterogenous group of
there are about a dozen subtypes and they arediseases stimulated by a lack of the liver
categorised based on the enzyme insufficiency andphosphorylase and phosphorylase kinase system.
the involved organs. Disorders of glycogenThere is no hyperuricemia or hyperlactatemia.
degradation or Hers Disease could strike mainly theType XI is mainly characterised by hepatic
liver, the muscles and/or both.glycogenosis and renal Fanconi syndrome.
Type Ia affects the liver, kidney and the intestineTypes V and VII involve only the muscle.
while Ib effects the leukocytes. Some clinical