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Glycogen Storage Disease IV

1) Fatal perinatal neuromuscular type

–Excess fluid builds up around fetus and in the fetus’ body

–Fetus have condition called akinesia deformation sequence

–Causes decrease in fetal movement and stiffness of joints after birth

–Infants have low muscle tone and muscle wasting

–Do not survive past newborn stage due to weakened heart and lungs

2)	Congenital muscular type

–Develops in early infancy

–Babies have dilated cardiomyopathy, preventing heart from pumping efficiently

–Only survive a few months

3)	Progressive hepatic type

–Infants have difficulty gaining weight

–Develop enlarged liver and cirrhosis, that is irreversible

–High BP in hepatic portal vein and build up of fluid in abdominal cavity

–Die of liver failure in early childhood

4)	Non-progressive hepatic type

–Same as progressive, but liver disease is not as severe

–Do not usually develop cirrhosis

–Usually show muscle weakness and hypotonia

–Survive into adulthood

–Life expectancy varies on severity of symptoms

5)	Childhood neuromuscular type

–Develops in late childhood

–Has myopathy and dilated cardiomyopathy

–Varies greatly

–Some have mild muscle weakness

–Some have severe cardiomyopathy and die in early adulthood

•	Type IV is responsible for approximately 3% of Glycogen Storage Disease

•	Mutations in GBE1 gene cause GSD IV

➢	Gene mutation cause a deficiency in glycogen branching enzyme

➢	Therefore, glycogen is not made properly

➢	Abnormal glycogen cells accumulate in cells, but most severely in cardiac and muscle cells

➢	Severity of GSD IV depends on how much of the enzyme is produced

•	GSD IV is autosomal recessive

➢	Each parent has a copy of the mutant gene, but show no symptoms or signs of disease