Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani, Priya S.; Austin, Stephanie; Abdenur, José E.; Arn, Pamela; Bali, Deeksha; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I; Dale, David C.; Koeberl, Dwight D.; Somers, Michael J.; Wechsler, Stephanie Burns; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S.

doi:10.1038/gim.2014.128

Cited by 359 publications

(614 citation statements)

References 199 publications

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“…The inability to release glycogen as glucose during periods of fasting results in marked hypoglycemia. In glycogen storage disease type I (GSD I), hypoglycemia is severe since all endogenous glucose production is impaired, and the shunting of glucose-6-phosphate into alternative pathways results in the accumulation of uric acid, triglycerides, and lactate (Kishnani et al 2014).…”

Section: Introductionmentioning

confidence: 99%

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

et al. 2015

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Background: Glycogen storage disease type I (GSD I) causes severe hypoglycemia during periods of fasting since both glycogenolysis and gluconeogenesis are impaired. Primary treatment in North America consists of cornstarch therapy every 3-4 h. Waxy maize extended release cornstarch was introduced for maintaining overnight glucose concentrations, but no studies have assessed longterm safety and efficacy of the product.Objective: To demonstrate the safety and efficacy of modified cornstarch in GSD I.Design: An open-label overnight trial of extended release cornstarch was performed. Subjects with a successful trial (optimal metabolic control 2 or more hours longer than with traditional cornstarch) were given the option of continuing into the chronic observational phase. Subjects were assessed biochemically at baseline and after 12 months.Results: Of the 106 subjects (93 GSD Ia/13 GSD Ib), efficacy was demonstrated in 82 patients (88%) with GSD Ia and 10 patients (77%) with GSD Ib. The success rate for extending fasting was 95% for females and 78% for males. Of the patients who entered the longitudinal phase, longterm data are available for 44 subjects.

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Section: Introductionmentioning

confidence: 99%

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

et al. 2015

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“…In this study hypoglycemia was defined as a glucose concentration of ≤2.5 mmol/l without symptoms of hypoglycemia, or symptoms of hypoglycemia and a capillary blood glucose <3.1 mmol/l. Average fasting times on weekends were assessed for glucose cut-off values of >3.5 mmol/l and >4 mmol/l, in accordance with recommended preprandial blood glucose targets in European (>3.5-4.0 mmol/l) and American guidelines (>3.8 mmol/l, 70 mg/dl) (Rake et al 2002;Kishnani et al 2014).…”

Section: Dietary Therapymentioning

confidence: 99%

“…Dietary treatment is the cornerstone of GSDI therapy (Rake et al 2002;Bhattacharya 2011;Kishnani et al 2014). A regular carbohydrate intake is necessary to avoid hypoglycemia and to achieve good metabolic control.…”

Section: Introductionmentioning

confidence: 99%

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

Hochuli

Christ

Meienberg

et al. 2015

J of Inher Metab Disea

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“…A practice guideline for management of GSD 1a has recently been published 59 . In the infantile period, normoglycemia is maintained through frequent feeds and in some cases, the addition of glucose polymer to the feeds.…”

Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

“…Continuous feeds via nasogastric or gastrostomy tube are an alternative treatment strategy. In infancy, continuous feeds should provide a glucose infusion rate of ~8-10 mg/kg/min with lower rates in older children (4-8 mg/kg/min) 59 . Accidental disconnection of continuous feeds during sleep can lead to life-threatening hypoglycemia.…”

Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

Inherited Metabolic Disorders

2015

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The introduction of newborn screening and the development of new therapies have led to an expanding population of patients with inherited metabolic disorders, and these patients are now entering adulthood. Dietary therapy is the mainstay of treatment for many of these disorders and thus, trained metabolic dietitians are critical members of the multidisciplinary team required for management of such patients. The main goals of dietary therapy in inborn errors of metabolism are the maintenance of normal growth and development while limiting offending metabolites and providing deficient products. Typically, the offending metabolite is either significantly reduced or removed completely from the diet and then reintroduced in small quantities until blood levels are within the normal range. Such treatment is required in infancy, childhood and adulthood and requires careful monitoring of micronutrient and macronutrient intake throughout the lifespan. The goal of this review is to highlight the basic principles of chronic nutritional management of the inborn errors of protein, carbohydrate and fat metabolism.

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Abstract: PURPOSEThis guideline is intended as an educational resource. It highlights current practices and therapeutic approaches to the diagnosis and management of GSD I and its early and longterm complications.

Cited by 359 publications

References 199 publications

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

Inherited Metabolic Disorders

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