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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.

Publication ,  Journal Article
Kishnani, PS; Austin, SL; Abdenur, JE; Arn, P; Bali, DS; Boney, A; Chung, WK; Dagli, AI; Dale, D; Koeberl, D; Somers, MJ; Wechsler, SB ...
Published in: Genet Med
November 2014

PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for glucose 6-phosphate (GSD Ib), resulting in excessive accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa. Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Individuals with GSD type Ia typically have symptoms related to hypoglycemia in infancy when the interval between feedings is extended to 3–4 hours. Other manifestations of the disease vary in age of onset, rate of disease progression, and severity. In addition, patients with type Ib have neutropenia, impaired neutrophil function, and inflammatory bowel disease. This guideline for the management of GSD I was developed as an educational resource for health-care providers to facilitate prompt, accurate diagnosis and appropriate management of patients. METHODS: A national group of experts in various aspects of GSD I met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. RESULTS: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (hepatic, kidney, gastrointestinal/nutrition, hematologic, cardiovascular, reproductive) involved in GSD I. Conditions to consider in the differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic and renal transplantation, and prenatal diagnosis, are also addressed. CONCLUSION: A guideline that facilitates accurate diagnosis and optimal management of patients with GSD I was developed. This guideline helps health-care providers recognize patients with all forms of GSD I, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It also helps to identify gaps in scientific knowledge that exist today and suggests future studies.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

November 2014

Volume

16

Issue

11

Start / End Page

e1

Location

United States

Related Subject Headings

  • Monosaccharide Transport Proteins
  • Humans
  • Glycogen Storage Disease Type I
  • Glucose-6-Phosphatase
  • Genetics & Heredity
  • Diagnosis, Differential
  • Antiporters
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Kishnani, P. S., Austin, S. L., Abdenur, J. E., Arn, P., Bali, D. S., Boney, A., … American College of Medical Genetics and Genomics, . (2014). Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med, 16(11), e1. https://doi.org/10.1038/gim.2014.128
Kishnani, Priya S., Stephanie L. Austin, Jose E. Abdenur, Pamela Arn, Deeksha S. Bali, Anne Boney, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.Genet Med 16, no. 11 (November 2014): e1. https://doi.org/10.1038/gim.2014.128.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.
Kishnani, Priya S., et al. “Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.Genet Med, vol. 16, no. 11, Nov. 2014, p. e1. Pubmed, doi:10.1038/gim.2014.128.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS, American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

November 2014

Volume

16

Issue

11

Start / End Page

e1

Location

United States

Related Subject Headings

  • Monosaccharide Transport Proteins
  • Humans
  • Glycogen Storage Disease Type I
  • Glucose-6-Phosphatase
  • Genetics & Heredity
  • Diagnosis, Differential
  • Antiporters
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics