Abstract
Population-specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 years, height 1.30 ± 0.10 m, body mass 60.5 ± 18.3 kg, female: male n = 24:13, achondroplasia n = 26; mean ± SD). Basal metabolic rate was 6529 ± 1703 kJ·d−1 and total mass-normalized energy requirements were higher for females versus males. Plasma concentrations of glucose (5.55 ± 0.73 mmol·L−1), insulin (36.4 ± 19.9 pmol·L−1) and lipids (triacylglycerol 0.84 ± 0.37 mmol·L−1; total cholesterol 4.54 ± 0.85 mmol·L−1; high-density lipoprotein cholesterol 1.41 ± 0.31 mmol·L−1; low-density lipoprotein cholesterol 2.73 ± 0.69 mmol·L−1) were mostly within healthy clinical reference ranges. Sagittal abdominal diameter was positively correlated with plasma glucose and leptin concentrations (r = 0.85; 95% CI: 0.61, 0.95; p < 0.0001, and r = 0.85; 95% CI: 0.61, 0.95; p < 0.0001, respectively). Mean ± SD body mass index (BMI) was 36.1 ± 11.0 kg·m−2. However, we found that body mass scaled to height by the power of 1.4 (95% CI: 0.2, 2.6) rather than 2 associated with conventional BMI. Conventional biomarkers of cardiometabolic health are not substantially elevated in these individuals with restricted growth despite the classification of obesity using height-dependent references (e.g., traditional BMI).
| Original language | English |
|---|---|
| Article number | e64235 |
| Journal | American Journal of Medical Genetics - Part A |
| Early online date | 11 Sept 2025 |
| DOIs | |
| Publication status | E-pub ahead of print - 11 Sept 2025 |
Bibliographical note
Publisher Copyright:© 2025 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Data Availability Statement
Data will be made publicly available in the University of Bath ResearchData ArchiveFunding
L.H.M. is funded by BBSRC and receives an annual stipend for her role as Editorial Assistant for the . H.A.S. is an investigator on grants funded by the Sleep Research Society Foundation, The Rank Prize Funds and is a former employee of ZOE Ltd., from which he received share options as part of this employment and for whom he still holds an unpaid consultancy role. H.A.C. has received research funding from the Economic and Social Research Council, the European Hydration Institute, and the Esther Olssons stiftelse II & Anna Jönssons Minnesfond; has conducted research for Tate & Lyle; and has received conference, travel, accommodation, and speakers fees from Danone Nutricia Research. J.T.G. has received research funding from BBSRC, MRC, British Heart Foundation, Clasado Biosciences, Lucozade Ribena Suntory, ARLA Foods Ingredients, Cosun Nutrition Center, Innocent Drinks and the Fruit Juice Science Centre; is a (non‐exec) scientific advisory board member to ZOE; and has completed paid consultancy for 6d Sports Nutrition, Science in Sport, The Dairy Council, PepsiCo, Violicom Medical, Tour Racing Ltd., and SVGC. For a full list of disclosures see https://gonzalezjt1.wordpress.com/2024/03/ . J.A.B. is an investigator on research grants funded by BBSRC, MRC, NIHR, British Heart Foundation, Rare Disease Foundation, EU Hydration Institute, GlaxoSmithKline, Nestlé, Lucozade Ribena Suntory, ARLA foods, Cosun Nutrition Center, American Academy of Sleep Medicine Foundation, Salus Optima (L3M Technologies Ltd), and the Restricted Growth Association; has completed paid consultancy for PepsiCo, Kellogg's, SVGC and Salus Optima (L3M Technologies Ltd); is Company Director of Metabolic Solutions Ltd.; receives an annual honorarium as a member of the academic advisory board for the International Olympic Committee Diploma in Sports Nutrition; and receives an annual stipend as Editor‐in‐Chief of the . International Journal of Sport Nutrition & Exercise Metabolism International Journal of Sport Nutrition & Exercise Metabolism This work was supported by Rare Disease Foundation (18‐26, 26‐28); University of Bath. Funding:
| Funders | Funder number |
|---|---|
| International Olympic Committee Diploma in Sports Nutrition | |
| PepsiCo | |
| SVGC | |
| Salus Optima | |
| NIHR | |
| Sleep Research Society Foundation | |
| Esther Olssons stiftelse II & Anna Jönssons Minnesfond | |
| ZOE Ltd. | |
| Dairy Council | |
| BBSRC | |
| Clasado Biosciences | |
| University of Bath | |
| Danone Nutricia Research | |
| British Heart Foundation | |
| L3M Technologies Ltd | |
| 6d Sports Nutrition, Science in Sport | |
| Cosun Nutrition Center | |
| Restricted Growth Association | |
| ARLA Foods Ingredients | |
| GlaxoSmithKline | |
| Innocent Drinks | |
| Economic and Social Research Council | |
| American Academy of Sleep Medicine Foundation | |
| MRC | |
| European Hydration Institute | |
| Fruit Juice Science Centre | |
| EU Hydration Institute | |
| Rare Disease Foundation | 26‐28, 18‐26 |
Keywords
- achondroplasia
- cardiometabolic health
- metabolic requirements
- skeletal dysplasia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)

