Hepatic Glycogen Synthetase Deficiency: Further Studies on a Family

Dykes, J. R. W.; Spencer-Peet, J.

doi:10.1136/adc.47.254.558

Cited by 17 publications

(13 citation statements)

References 14 publications

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“…The findings in the present case, together with those described by Lewis et al (1963) and Dykes and Spencer-Peet (1972), allow a definition of the syndrome of hepatic glycogen synthetase deficiency.…”

Section: Resultssupporting

confidence: 77%

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Aynsley-Green¹,

Williamson²,

Gitzelmann³

1977

Archives of Disease in Childhood

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SUMMARY In the 13 years since hepatic glycogen synthetase deficiency was first described in identical twins no further cases seem to have been observed. We report a child who had suffered from occasional morning convulsions since the age of 7. Three 24-hour metabolic profiles showed fasting hypoglycaemia, hyperketonaemia, but normal lactate. Hyperglycaemia and hyperlactataemia occurred after meals. Glucagon caused a rise in glucose 3 hours after a meal with a fall in lactate and alanine; no effect of glucagon was seen after a 12-hour fast. Normal increments in glucose followed oral galactose or alanine. Liver and abdominal wall muscle biopsies were taken. Glycogen content was subnormal in liver but normal in muscle. Glycogen synthetase (EC 2.4

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Section: Resultssupporting

confidence: 77%

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Aynsley-Green¹,

Williamson²,

Gitzelmann³

1977

Archives of Disease in Childhood

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“…[18,19,20] Most children over 7 years of age tolerate a typical overnight fast without development of hypoglycemia, and fasting for up to 18 hours has been reported in teenagers. This improvement in fasting tolerance, however, is not universal, and some children continue to develop hypoglycemia after an overnight fast.…”

Section: Natural History and Prognosismentioning

confidence: 99%

“…This improvement in fasting tolerance, however, is not universal, and some children continue to develop hypoglycemia after an overnight fast. [18] Severe hypoglycemia is unusual in older children and adults; however, ketosis remains common in untreated individuals, and most patients report feeling better with continued overnight glucose supplementation. Hypoglycemia remains a problem even in the older population with prolonged fasting, illness, pregnancy, increased activity, or when normal enteral intake is interrupted.…”

Section: Natural History and Prognosismentioning

confidence: 99%

“…An oral galactose load may also result in increased postprandial blood lactate concentrations. [18] It is important to appreciate that a typical fasting study, which does not measure blood metabolite concentrations in the postprandial period, will often show no obvious hormonal or biochemical abnormalities, leading to misdiagnosis as "ketotic hypoglycemia" or "accelerated starvation".…”

Section: Diagnosismentioning

confidence: 99%

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Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia

Weinstein

Correia

Saunders

et al. 2006

Molecular Genetics and Metabolism

110

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The glycogen storage diseases comprise several inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. In contrast to the classic hepatic glycogen storage diseases that are characterized by fasting hypoglycemia and hepatomegaly, the liver is not enlarged in GSD0. Patients with GSD0 typically have fasting ketotic hypoglycemia without prominent muscle symptoms. Most children are cognitively and developmentally normal. Short stature and osteopenia are common features, but other long-term complications, common in other types of GSD, have not been reported in GSD0. Until recently, the definitive diagnosis of GSD0 depended on the demonstration of decreased hepatic glycogen on a liver biopsy. The need for an invasive procedure may be one reason that this condition has been infrequently diagnosed. Mutation analysis of the GYS2 gene (12p12.2) is a non-invasive method for making this diagnosis in patients suspected to have this disorder. This mini-review discusses the pathophysiology of this disorder, use of mutation analysis to diagnose GSD0, and the clinical characteristics of all reported cases of GSD0.

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“…The phosphofructokinase activity of erythrocytes shows at least two isoenzymes, one of which is the muscle type; the erythrocyte phosphofructokinase of the type VII patients and their relatives appears to be reduced. Dykes and Spencer-Peet (1972) have reported further studies on a patient which they earlier documented as having marked hypoglycaemia, low levels of liver glycogen, and a lack of glycogen synthetase in this tissue. A deficiency of phosphoglucomutase in muscle was reported by Thomson, MacLaurin, and Prineas (1963).…”

Section: Type IXmentioning

confidence: 88%

The glycogen storage diseases

Ryman¹

1974

J Clin Pathol

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Hepatic Glycogen Synthetase Deficiency: Further Studies on a Family

Cited by 17 publications

References 14 publications

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia

The glycogen storage diseases

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