scholarly journals Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

1998 ◽  
Vol 102 (3) ◽  
pp. 507-515 ◽  
Author(s):  
M Orho ◽  
N U Bosshard ◽  
N R Buist ◽  
R Gitzelmann ◽  
A Aynsley-Green ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency)

2010 ◽  
Vol 411 (13-14) ◽  
pp. 998-999 ◽  
Author(s):  
Ichitomo Miwa ◽  
Tadao Taguchi ◽  
Hisaki Asano ◽  
Tomiyasu Murata ◽  
Tohru Yorifuji ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Low Level ◽  
Fasting Plasma

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

2002 ◽  
Vol 140 (6) ◽  
pp. 781-783 ◽  
Author(s):  
Bert E. Bachrach ◽  
David A. Weinstein ◽  
Marju Orho-Melander ◽  
Anne Burgess ◽  
Joseph I. Wolfsdorf
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
New Mutations

scholarly journals A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0

2010 ◽  
Vol 11 (1) ◽  
Author(s):  
Ana Priscila Soggia ◽  
Maria Lúcia Correa-Giannella ◽  
Maria Angela Henriques Fortes ◽  
Ana Mercedes Cavaleiro Luna ◽  
Maria Adelaide Albergaria Pereira
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

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

2020 ◽  
Vol 48 (8) ◽  
pp. 030006052093685
Author(s):  
Janez Jan Arko ◽  
Marusa Debeljak ◽  
Mojca Zerjav Tansek ◽  
Tadej Battelino ◽  
Urh Groselj
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Autosomal Recessive Disorder ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Hepatic Glycogen ◽  
Sequence Variant ◽  
Protein Rich

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 patient’s neurocognitive development was normal. To date, only 39 patients with 24 disease-causing gene variants have been identified in GSD0, and we review their characteristics. Because of the heterogeneous phenotypes, GSD0 is an underdiagnosed disorder. In patients with hyperketotic hypoglycemia and postprandial hyperglycemia, GYS2 gene analysis should be performed.

Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm the Diagnosis

2008 ◽  
Vol 21 (6) ◽  
pp. 587-590
Author(s):  
Jonathan Seigel ◽  
David A. Weinstein ◽  
Richard Hillman ◽  
Brooke Colbert ◽  
Belinda Matthews ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Mutation Analysis ◽  
Storage Disease ◽  
Clinical Laboratory ◽  
Autosomal Recessive Disorder ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Ketotic Hypoglycemia

Abstract Glycogen storage disease type III (GSD-111) is an autosomal recessive disorder caused by the lack of amylo-1,6-glucosidase (AGL), one of the catalytic domains of the glycogen debranching enzyme. Deficiency of this enzyme classically results in hepatomegaly and ketotic hypoglycemia. The diagnosis of the disorder was previously confirmed with a liver biopsy demonstrating abnormal liver glycogen content and absent enzyme activity. We describe an 11 month-old African-American Jehovah's Witness male with non-ketotic hypoglycemia (NKH), hepatomegaly, cardiomyopathy, and a flat glucagon response confirmed to have GSD-IIIa by mutation analysis of the A GL gene. The present case represents an unusual presentation (NKH) of GSD-IIIa and emphasizes the utility of the newly approved commercially available Clinical Laboratory Improvement Advisory Committee (CLIA) mutation analysis test.

scholarly journals Three Successful Pregnancies in a Patient With Glycogen Storage Disease Type 0

2020 ◽  
Author(s):  
Sarah Catharina Grünert ◽  
Stefanie Rosenbaum-Fabian ◽  
Luciana Hannibal ◽  
Anke Schumann ◽  
Ute Spiekerkötter
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
First Trimester ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Glucose Infusion ◽  
Healthy Children ◽  
Severe Nausea

Abstract BackgroundGlycogen storage disease type 0 (GSD 0) is a rare inborn error of metabolism due to deficiency of the enzyme glycogen synthase (EC 2.4.1.11). Patients with this disorder are unable to store glucose as glycogen in the liver. GSD 0 is therefore characterized by ketotic fasting hypoglycemia in combination with postprandial hyperglycemia and hyperlactatemia. So far, only one pregnancy has been described in a woman with GSD 0. Case presentationWe herein report a 32 year-old patient GSD 0 with three successful pregnancies. The diagnosis of GSD 0 was made in early childhood due to characteristic symptoms. The patient had two healthy children at the time of her first visit in our metabolic centre. The diet was optimised prior to her third pregnancy with a protein-rich diet including cornstarch and protein supplements. Pregnancy was confirmed at week 6 of gestation. Dietary management was difficult during pregnancy, especially in the first trimester due to severe nausea. Labour was induced at 37 weeks of gestation due to cholestasis of pregnancy, and the patient delivered a healthy baby girl. Perinatally, the mother received a high glucose infusion to stabilize blood glucose levels. The neonate also required a glucose infusion postnatally because of impaired glucose homeostasis. Similar to diabetic fetopathy, recurrent maternal hyperglycemia may result in hyperinsulinism of the child and trigger neonatal hypoglycemia.ConclusionsAll four pregnancies in women with GSD 0 described to date occurred with minor complications and resulted in healthy offspring, which underpins the good prognosis and rather benign character of this rare metabolic disease. Careful monitoring during pregnancy and delivery is, however, necessary to minimize the risk of recurrent hypoglycemia for both mother and child.

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