Glycogen storage disease type iv

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Glycogen storage disease type IV: a case report.

Zhonghua yi xue za zhi = Chinese medical journal; Free China ed, 1999
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. This results in the accumulation of abnormal glycogen in the liver and other organs. We report the case of a 14-month-old female patient with typical hepatic pathologic findings of GSD-IV.
Y J, Chan, S P, Lin, B F, Chen
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Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy

BMJ Case Reports
Glycogen storage disease (GSD) type IV is an autosomal recessive disorder due to a deficiency of glycogen branching enzyme (GBE), leading to accumulation of polyglucosan inclusion in tissues. The congenital neuromuscular variant is a severe subtype presenting as hypotonia, respiratory distress and dilated cardiomyopathy, resulting in early death ...
Genevieve Villablanca Llanora +3 more
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Type IV glycogen storage disease: first reported case in Thailand.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1990
Glycogen storage disease type IV is rare. The disease is characterized by widespread storage of a polysaccharide similar to amylopectin. An autopsy case of a 6-year-old Thai boy with cirrhosis and deposits in the liver, heart, muscle and central nervous system was described along with histochemical and electron microscopic findings.
V, Hemsrichart +3 more
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eP035: Genotype-phenotype correlation of glycogen storage disease type IV