GAA deficiency results in accumulation of glycogen and successive enlargement of lysosomes.
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.
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.
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 ].
Glucose comes from breaking down the food we eat.