Evaluation of central nervous system in patients with glycogen storage disease type 1a

Aydemir, Yusuf; Gürakan, Figen; Saltık-Temizel, İnci Nur; Demır, Hülya; Oğuz, Kader K.; Yalnızoğlu, Dilek; Topçu, Meral; Özen, Hasan; Yüce, Aysel

doi:10.24953/turkjped.2016.01.002

Cited by 6 publications

(13 citation statements)

References 18 publications

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“…The other 2 patients had peritrigonal changes and lesions in the cortical and subcortical regions of the fronto-temporal cortex, similar to the findings of Aydemir et al (4). The occasional damage to frontal areas in some neonates with severe hypoglycemia involves infarctions of the distal field, typical in ischemic conditions (29).These neuroimaging findings are consistent with the hypothesis that the principal neurological effect of glycogenosis is the result of inadequate metabolic control, especially with respect to hypoglycemia (4,27). Interestingly, and not previously investigated, our study allowed the comparison of neuronal damage from GSD type I with that of GSD IX.…”

Section: Discussionsupporting

confidence: 86%

“…Twelve types of GSD have been identified, which are classified according to their associated enzyme deficiencies (4,5). The overall incidence of GSD is estimated to be 1:10,000 live births (5).…”

Section: Introductionmentioning

confidence: 99%

“…Subtypes I and III, are the most common type, whereas subtype IX are considered to be rare and it prevalence remain to be estimated (1). The clinical manifestations of GSDs vary according to the defective enzyme and its relative expression in different tissues, especially the liver and skeletal muscle (4,6). GSDs with liver involvement (hepatic GSDs) are a complex group of disorders, the main symptoms of which include hypoglycemia and hepatomegaly (1,5).…”

Section: Introductionmentioning

confidence: 99%

“…The dysregulation of glucose metabolism affects the entire central nervous system and can cause serious damage, because glucose is essential for normal neuronal function (4). Low brain glycogen reserves hinder local glucose availability as a conventional energy source, causing a continuous demand for glucose from the circulation and ultimately using approximately 25% of the body's glucose (2,12).…”

Section: Introductionmentioning

confidence: 99%

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Neurological Characteristics of Pediatric Glycogen Storage Disease

et al. 2021

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Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage. The aims of this study were to first investigate the metabolic, genetic, and neurological profiles of children with GSD, and to test the hypothesis whether GSD type I would have greater neurological impact than GSD type IX. A cross-sectional study was conducted with 12 children diagnosed with GSD [Types: Ia (n=5); 1, Ib (n=1); 4, IXa (n=5); and 1, IXb (n=1)]. Genetic testing was conducted for the following genes using multigene panel analysis. The biochemical data and magnetic resonance imaging of the brain presented by the patients were evaluated. The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease type I consensus. Pathogenic mutations were identified using multigene panel analyses. The mutations and clinical chronology were related to the disease course and neuroimaging findings. Adequate metabolic control was achieved in 67% of patients (GSD I, 43%; GSD IX, 100%). Fourteen different mutations were detected, and only two co-occurring mutations were observed across families (G6PC c.247C>T and c.1039C>T). Six previously unreported variants were identified (5 PHKA2; 1 PHKB). The proportion of GSD IX was higher in our cohort compared to other studies. Brain imaging abnormalities were more frequent among patients with GSD I, early-symptom onset, longer hospitalization, and inadequate metabolic control. The frequency of mutations was similar to that observed among the North American and European populations. None of the mutations observed in PHKA2 have been described previously. Therefore, current study reports six GSD variants previously unknown, and neurological consequences of GSD I. The principal neurological impact of GSD appeared to be related to inadequate metabolic control, especially hypoglycemia.

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Section: Discussionsupporting

confidence: 86%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Neurological Characteristics of Pediatric Glycogen Storage Disease

et al. 2021

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“…Patients with GSD1A have various clinical manifestations according to the patient’s age, including fasting hypoglycemia, hepatomegaly, hyperlipidemia, lactic acidemia, hyperuricemia, poor growth and short stature [1,2]. In the neonatal period, patients may present with symptoms of lactic acidosis and hypoglycemia [4,5]. Our patient presented with hypoglycemia and lactic acidemia in the neonatal period.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

Dorum

Görükmez

2018

Balkan Journal of Medical Genetics

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Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.

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Glycogen storage disease type 1a in the Ohio Amish

et al. 2022

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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 GCPC c.1039 C > T. The phenotype of this cohort demonstrated good metabolic control with median cohort triglyceride level slightly above normal, no need for continuous overnight feeds, and a higher quality of life compared to a previous GSD cohort. The most frequent complications were oral aversion, gross motor delay, and renal hyperfiltration. We discuss our unique care delivery at a single center that cares for Amish patients with inherited disorders.

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Evaluation of central nervous system in patients with glycogen storage disease type 1a

Cited by 6 publications

References 18 publications

Neurological Characteristics of Pediatric Glycogen Storage Disease

Neurological Characteristics of Pediatric Glycogen Storage Disease

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

Glycogen storage disease type 1a in the Ohio Amish

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