Document Detail

The regulation of growth in glycogen storage disease type 1.
MedLine Citation:
PMID:  12608939     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To study endocrine and metabolic variables that affect growth in patients with glycogen storage disease type 1 (GSD-1) receiving standard dietary therapy. DESIGN: Observational study. PATIENTS AND MEASUREMENTS: Thirty-eight patients with GSD-1, age range 0.6-32.9 years, were investigated on their usual dietary regimens. Data on height, height velocity in prepubertal children, endocrine and metabolic responses to oral glucose load, 24-h serum cortisol and GH concentration profiles and serum IGF-1 concentrations were collected. RESULTS: The population studied was shorter than average, with a median height standard deviation score (SDS) of -1.60, but significantly taller than a historical population studied at the same institution that had not received dietary therapy at the time of study. A wide range of height SDS was encountered (-5.28 to 1.21) and a subset still exhibit marked growth failure. Median body mass index (BMI) SDS was 0.72 (range -1.34 to 3.96). Those patients with the greatest BMI SDS had the lowest serum GH concentrations but serum IGF-1 concentrations were within the normal range. Patients with the poorest growth exhibit low serum insulin concentration responses to glucose load, GH insensitivity and higher mean 24-h plasma cortisol levels when compared to those patients who were better grown. CONCLUSION: This study shows that overall the growth of this group of patients with glycogen storage disease type 1 has improved compared to that of a historical control group. There remains a subset of this population with poor growth despite therapy. The measured endocrine responses in this subset are similar to those reported for untreated patients. To improve the growth further in these individuals it will be necessary to understand whether this is failure of prescribed therapy or failure to comply with therapy.
Helen R Mundy; Peter C Hindmarsh; David R Matthews; James V Leonard; Philip J Lee
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical endocrinology     Volume:  58     ISSN:  0300-0664     ISO Abbreviation:  Clin. Endocrinol. (Oxf)     Publication Date:  2003 Mar 
Date Detail:
Created Date:  2003-02-28     Completed Date:  2003-05-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0346653     Medline TA:  Clin Endocrinol (Oxf)     Country:  England    
Other Details:
Languages:  eng     Pagination:  332-9     Citation Subset:  IM    
The London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, London, UK.
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MeSH Terms
Body Height
Body Mass Index
Child, Preschool
Glucose Tolerance Test
Glycogen Storage Disease Type I / blood,  complications*,  diet therapy,  physiopathology
Growth Disorders / blood,  etiology*
Growth Hormone / blood
Hydrocortisone / blood
Insulin / blood
Insulin-Like Growth Factor I / analysis
Treatment Outcome
Reg. No./Substance:
11061-68-0/Insulin; 50-23-7/Hydrocortisone; 67763-96-6/Insulin-Like Growth Factor I; 9002-72-6/Growth Hormone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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