Functional and enzymatic improvement during pregnancy in McArdle's disease

McArdle's disease (glycogen storage disease type V) is an inherited metabolic myopathy with an estimated prevalence of 1 in 50,000 –200,000 in the United States. The aetiology results from genetic mutations of the glycogen phosphorylase enzyme (PGYM) - on chromosome 11q13, resulting in a lack or dysfunction of the muscle glycogen phosphorylase (myophosphorylase), which metabolizes glycogen stored in the muscle and provides gl ucose-1-phosphate to generate energy in the form of ATP during exercise [1].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research