Glycogen storage disorder essay

GAA deficiency results in accumulation of glycogen and successive enlargement of lysosomes.

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If a family history with a mutation is known, prenatal genetic screening is possible. Mutations in the lysosomal-associated membrane protein 2 LAMP2 were identified as the cause of this disorder Nishino et al.

Is glycogen storage disease fatal

Muscle wasting is slowly progressive in adulthood and may be severe by the 3rd or 4th decade of life [ 70 ]. While most patients are relatively mild, a severe variant exists that mimics type I GSD in infancy with severe fasting hypoglycemia. Beyond this point, patients may present with a failure to thrive, hepatosplenomegaly and progressive liver cirrhosis, resulting in death by 5 years of age. Most mutations identified in PHKB have been severe null mutations expected to lead to premature protein truncation or mRNA decay; nevertheless, patients generally have mild symptoms including hypoglycemia after prolonged fasting, hepatomegaly, and mild hypotonia [ 19 ]. Most adults are asymptomatic, but adult females may experience hypoglycemia during pregnancy or with alcohol consumption. Increased reticulocytes, hyperbilirubinemia, jaundice, gallstones, and gout may help provide diagnostic clues. Muscle fibers from affected patients demonstrate severe depletion of myofibrils, and there may be amyloplasia with total fatty replacement of skeletal muscle.

This molecular glycogenic structure diagram will be embedded into the body of the essay, together with the explanation of this molecular structure. However, because there is no treatment for myopathy, many patients end up wheelchair bound. A glycogen storage disorder occurs in about one in 20, to 25, babies.

Unlike GSD type I, fasting ketosis is prominent and liver enzymes i.

glycogen storage disease pdf

The muscles and organs need a certain level of glucose in the blood in order to function properly. Complications including hepatic adenomas, osteoporosis, focal segmental glomerulosclerosis, and a small fiber neuropathy used to be common in the 2nd and 3rd decades of life, but the frequency of these complications has markedly decreased with improvements in therapy and good metabolic control [ 9, 10 ].

In contrast to classical GSD type IV, the pathologic hallmark of adult polyglucosan body disease is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes [ 89 ].

Glycogen storage disorder essay

Glucose comes from breaking down the food we eat.

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Glycogen Storage Disease Essay