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.
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.
Authors: Elizabeth Drake Brooks; Dianne Little; Ramamani Arumugam; Baodong Sun; Sarah Curtis; Amanda Demaster; Michael Maranzano; Mark W Jackson; Priya Kishnani; Michael S Freemark; Dwight D Koeberl Journal: Mol Genet Metab Date: 2013-04-06 Impact factor: 4.797
Authors: David A Weinstein; Catherine E Correia; Thomas Conlon; Andrew Specht; John Verstegen; Karine Onclin-Verstegen; Martha Campbell-Thompson; Gurmeet Dhaliwal; Layla Mirian; Holly Cossette; Darin J Falk; Sean Germain; Nathalie Clement; Stacy Porvasnik; Laurie Fiske; Maggie Struck; Harvey E Ramirez; Juan Jordan; Karl Andrutis; Janice Y Chou; Barry J Byrne; Cathryn S Mah Journal: Hum Gene Ther Date: 2010-07 Impact factor: 5.695
Authors: Andrew Specht; Laurie Fiske; Kirsten Erger; Travis Cossette; John Verstegen; Martha Campbell-Thompson; Maggie B Struck; Young Mok Lee; Janice Y Chou; Barry J Byrne; Catherine E Correia; Cathryn S Mah; David A Weinstein; Thomas J Conlon Journal: J Biomed Biotechnol Date: 2011-01-03
Authors: Joanne A Hoogerland; Fabian Peeks; Brenda S Hijmans; Justina C Wolters; Sander Kooijman; Trijnie Bos; Aycha Bleeker; Theo H van Dijk; Henk Wolters; Albert Gerding; Karen van Eunen; Rick Havinga; Amanda C M Pronk; Patrick C N Rensen; Gilles Mithieux; Fabienne Rajas; Folkert Kuipers; Dirk-Jan Reijngoud; Terry G J Derks; Maaike H Oosterveer Journal: J Inherit Metab Dis Date: 2021-04-07 Impact factor: 4.982
Authors: María-José de Castro; Paula Sánchez-Pintos; Nisreem Abdelaziz-Salem; Rosaura Leis; María L Couce Journal: Nutrients Date: 2021-06-20 Impact factor: 5.717