Glycogen storage disease type 1a (GSD1A), also known as von Gierke disease, is an autosomal recessive inborn error of metabolism, which typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. GSD1A is caused by homozygous or compound heterozygous variants in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase). The c.1039C>T (p.Gln347*) variant in exon 5 of the G6PC gene is the most frequent pathogenic variant found in Amish population. This targeted test will specifically analyze the c.1039C>T variant.
1 - 2 weeks