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{{Glycogen storage disease type I}}
{{Glycogen storage disease type I}}
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==Overview==
==Overview==
Effective measures for primary prevention of glycogen storage disease type 1 include [[genetic counseling]], [[prenatal diagnosis]], and [[Screening (medicine)|screening]].


==Primary Prevention==
==Primary Prevention==
===Dietary Therapy===
Effective measures for primary prevention of glycogen storage disease type 1 include:<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref>
The primary treatment goal is prevention of [[hypoglycemia]] and the secondary metabolic derangements by frequent feedings of foods high in glucose or [[starch]] (which is readily digested to glucose). To compensate for the inability of the liver to provide sugar, the total amount of dietary carbohydrate should approximate the 24-hour glucose production rate. The diet should contain approximately 65-70% carbohydrate, 10-15% protein, and 20-25% fat. At least a third of the carbohydrates should be supplied through the night, so that a young child goes no more than 3-4 hours without carbohydrate intake.
* '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with GSD type 1 and to all adults with GSD type 1.
 
* '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is molecular testing when both the [[mutations]] are known.
In the last 30 years, two methods have been used to achieve this goal in young children: (1) continuous nocturnal [[gastric infusion]] of glucose or starch; and (2) night-time feedings of uncooked cornstarch. An elemental formula, glucose [[polymer]], and/or corn starch can be [[infused]] continuously through the night at a rate supplying 0.5-0.6 g/kg/h of glucose for an infant, or 0.3-0.4 for an older child. This method requires a [[nasogastric]] or [[gastrostomy tube]] and pump. Sudden death from hypoglycemia has occurred due to malfunction or disconnection, and periodic cornstarch feedings are now preferred to continuous infusion.
* '''Screening:''' The [[Probands|proband's]] [[G6PC]]/[[SLC37A4]] [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members.
 
Corn starch is an inexpensive way to provide gradually digested glucose. One tablespoon contains nearly 9 g carbohydrate (36 calories). Although it is safer, less expensive, and requires no equipment, this method does require that parents arise every 3-4 hours to administer the cornstarch. A typical requirement for a young child is 1.6 g/kg every 4 hours.
 
Long-term management should eliminate hypoglycemic symptoms and maintain normal growth. Treatment should achieve normal glucose, lactic acid, and electrolyte levels, and only mild elevations of uric acid and triglycerides.
 
===Avoidance of other sugars===
Intake of carbohydrates which must be converted to [[G6P]] to be utilized (e.g., [[galactose]] and [[fructose]]) should be minimized. Although elemental formulas are available for infants, many foods contain fructose or galactose in the forms of sucrose or lactose. Adherence becomes a contentious treatment issue after infancy.  


==References==
==References==
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[[Category:Endocrinology]]
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[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]

Latest revision as of 17:52, 30 November 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Effective measures for primary prevention of glycogen storage disease type 1 include genetic counseling, prenatal diagnosis, and screening.

Primary Prevention

Effective measures for primary prevention of glycogen storage disease type 1 include:[1]

  • Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type 1 and to all adults with GSD type 1.
  • Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when both the mutations are known.
  • Screening: The proband's G6PC/SLC37A4 mutations should be determined for diagnosis and direct further testing for family members.

References

  1. ↑ Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.

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