ABSTRACT
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
Subject(s)
1,4-alpha-Glucan Branching Enzyme , Clinical Coding , Glycogen Storage Disease Type IV , Glycogen Storage Disease , Glycogen , Liver Diseases , Liver TransplantationABSTRACT
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.
Subject(s)
Child , Humans , Infant , 1,4-alpha-Glucan Branching Enzyme , Glycogen , Glycogen Storage Disease , Glycogen Storage Disease Type IV , Liver , Liver Cirrhosis , Liver Transplantation , Living Donors , Tissue DonorsABSTRACT
Alteraçöes histopatológicas do fígado em material de biópsia de duas crianças de sete meses a três anos foram descritas e comparadas com as previamente relatadas na literatura. O diagnóstico foi feito com base nas manifestaçöes clínicas, achados de microscopia óptica e, em um dos casos, nos achados ultra-estruturais
Subject(s)
Humans , Male , Infant , Child, Preschool , 1,4-alpha-Glucan Branching Enzyme/metabolism , Glycogen Storage Disease Type IV/etiology , Liver/pathology , Glycogen Storage Disease Type IV/complications , Glycogen Storage Disease Type IV/diagnosisABSTRACT
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.