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Glycogen storage diseases: introduction
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Glycogen synthase deficiency (Table 58.2) is sometimes referred to as type 0 or GSD0, but this is a misnomer as there is no storage of glycogen. Patients have fasting hypoglycemia and ketosis; postprandially, they have elevation of lactic acid. They are often thought to have ketotic hypoglycemia. Glucose tolerance tests lead to substantial lactic acidemia. The enzyme activity can be tested only in liver. Current diagnosis is often made by a search for mutation.
Metabolic Disorders III
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
Laurie A. Tsilianidis, David A. Weinstein, Roberto Zori
Mutations in the hepatic glycogen synthase gene (GYS2 on 12p12.2) cause decreased hepatic glycogen synthesis. Hepatomegaly is not a feature of this disease, but it is classified as a form of GSD due to lack of access to glycogen during periods of fasting. Patients with GSD 0 have fasting ketotic hypoglycemia, and hyperglycemia and hyperlactatemia occur postprandially. Most children are cognitively and developmentally normal. Short stature and osteopenia are common, but other long-term complications have not been reported.
Albinism and a mitochondrial DNA deletion
Published in Ophthalmic Genetics, 2020
Corina M Chilibeck, Emma E Glamuzina, Casey Y-J Ung, Emma L Blakely, Robert W Taylor, Andrea L Vincent
The patient presented to her local paediatrician at 1 year of age with episodes of ketotic hypoglycemia, which resolved. By 4 years she represented with subtle weakness, tremor and new onset urinary and fecal incontinence. She developed feeding difficulties and faltering growth, eventually requiring gastrostomy feeding. She had increasing visual impairment and photophobia with an abnormal ocular examination. Accordingly, she was referred to the National Adult and Paediatric Metabolic Service and Ophthalmology services in Auckland, New Zealand.