1. Glycogen storage disease type 1a in the Ohio Amish
- Author
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Ethan M. Scott, Olivia K. Wenger, Elizabeth Robinson, Kristina Colling, Miraides F. Brown, Jennifer Hershberger, and Kadakkal Radhakrishnan
- Subjects
Endocrinology, Diabetes and Metabolism ,Internal Medicine ,Biochemistry, Genetics and Molecular Biology (miscellaneous) - Abstract
Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with GSD1a. A total of 15 patients cared for at a single center, with a median age of 9.9 years (range 0.25-24 years) were included. All patients shared the same founder variant in
- Published
- 2022