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

Arko, Janez Jan; Debeljak, Maruša; Tanšek, Mojca Žerjav; Battelino, Tadej; Grošelj, Urh

doi:10.1177/0300060520936857

Cited by 10 publications

(10 citation statements)

References 27 publications

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“…A focus on GSD subtype 0a is provided in this review and it will be referred to as “GSD type 0”. The onset of symptoms occurs before 3.5 years old on average [ 9 ]. Affected toddlers are incapable of synthetizing glycogen and having adequate glycemic response to stress or fasting periods.…”

Section: Resultsmentioning

confidence: 99%

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Massese

Tagliaferri

Dionisi‐Vici

et al. 2022

Orphanet J Rare Dis

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Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs. Main body Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms, whose presentation can be similar. Compared to GSD type I and III, which are characterized by a more severe impact on metabolic and glycemic homeostasis, GSD type 0, VI, IX and XI are usually known to be responsive to the nutritional treatment for achieving a balanced metabolic homeostasis in the pediatric age. However, some patients can exhibit a more severe phenotype and an important progression of the liver and muscular disease. The effects of dietary adjustments in GSD type IV are encouraging, but data are limited. Conclusions Early diagnosis allows a good metabolic control, with improvement of quality of life and prognosis, therefore we underline the importance of building a proper knowledge among physicians about these rare conditions. Regular monitoring is necessary to restrain disease progression and complications.

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Section: Resultsmentioning

confidence: 99%

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Massese

Tagliaferri

Dionisi‐Vici

et al. 2022

Orphanet J Rare Dis

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“…The clinical manifestations include fasting ketotic hypoglycemia accompanied by low levels of alanine and lactate and postprandial hyperglycemia and hyperlactatemia. Unlike other GSDs, patients with GSD0 usually do not develop hepatomegaly (81,82). GSDXI (Fanconi-Bickel syndrome) is caused by deficiency in a solute carrier family 2 protein (GLUT-2) that is expressed in hepatocytes and proximal renal tubule.…”

Section: Glycogen Storage Diseases (Gsd)mentioning

confidence: 99%

Section: Etiological Diagnosismentioning

confidence: 99%

An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use

Casertano¹,

Rossi

Fecarotta

et al. 2021

Front. Endocrinol.

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Hypoglycemia is the result of defects/impairment in glucose homeostasis. The main etiological causes are metabolic and/or endocrine and/or other congenital disorders. Despite hypoglycemia is one of the most common emergencies in neonatal age and childhood, no consensus on the definition and diagnostic work-up exists yet. Aims of this review are to present the current age-related definitions of hypoglycemia in neonatal-pediatric age, to offer a concise and practical overview of its main causes and management and to discuss the current diagnostic-therapeutic approaches. Since a systematic and prompt approach to diagnosis and therapy is essential to prevent hypoglycemic brain injury and long-term neurological complications in children, a comprehensive diagnostic flowchart is also proposed.

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“…Glycogen synthase deficiency (OMIM #240600), also known as glycogenosis (GSD) type 0, is a rare inborn error of glycogen metabolism due to mutations in GYS2 1 . Although the disease was described in 1963, 2 only about 40 cases of GSD 0 have been reported in the literature so far 3 . The disorder is clinically characterized by ketotic fasting hypoglycemia in combination with postprandial hyperglycemia and hyperlactatemia 4 .…”

Section: Introductionmentioning

confidence: 99%

“…First symptoms are usually observed in late infancy or early childhood. There is no clear genotype‐phenotype correlation in GSD 0 3 …”

Section: Introductionmentioning

confidence: 99%

Three successful pregnancies in a patient with glycogen storage disease type 0

et al. 2020

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Glycogen 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). The disorder is clinically 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. We report a 32‐year‐old GSD 0 patient 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 center. The diet was optimized 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. Labor 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. All 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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A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review

Cited by 10 publications

References 27 publications

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use

Three successful pregnancies in a patient with glycogen storage disease type 0

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