A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

ABSTRACT: Glycogen storage disease type 0 (GSD0) is an autosomal recessive disorder caused by a sequence variant in the GYS2 gene, leading to decreased or absent activity of hepatic glycogen synthase. With a frequency of less than 1 in 1,000,000 individuals, GSD0 represents only around 1% of all glycogen storage disease cases but it might be underrecognized. A 13-month-old girl of reportedly unrelated parents presented with a decreased level of consciousness, twitching in her left cheek, and munching. During a fasting test, hyperketotic hypoglycemia was found. A novel homozygous GYS2 gene sequence variant p.Thr445Arg was later confirmed by next-generation gene sequencing. After establishing a cornstarch- and protein-rich diet, the hypoglycemic episodes subsided and the pa

SUBMITTER: Arko JJ 

PROVIDER: S-EPMC7425267 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature