Prenatal diagnosis of glycogen storage disorder type III.
Among glycogen storage disorders, deficiency of glycogen debranching enzyme causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure in liver and muscle. This report describes a novel mutation in a family with glycogen storage disorder Type III in index child used in prenatal diagnosis in the fetus in second trimester.
Sujatha
J
J
Department of Clinical Genetics, Fetal Care Research Foundation, Chennai, India. fcrfchennai@yahoo.com
Amithkumar
I V
IV
Lathaa
B
B
D002648:Child; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*