Elsevier

The Journal of Pediatrics

Volume 188, September 2017, Pages 163-172
The Journal of Pediatrics

Original Articles
The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism

https://doi.org/10.1016/j.jpeds.2017.05.048Get rights and content

Objectives

To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes.

Study design

Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected. Prospective longitudinal data of growth, dietary intake, and body composition from 21 patients: IVA (n = 5), MMA/PA (n = 6), UCD (n = 7), and MSUD (n = 3) were collected at clinic visits.

Results

Fifty-two of 75 (66%), 49 of 74 (68%), and 44 of 65 (68%) patients had a z-score of 0 (±1) for lifetime weight, height, and body mass index, respectively. Patients with MMA/PA had the lowest median height and weight z-scores, and MSUD patients had highest median body mass index z-score at all ages. In IVA, MMA/PA, and UCD, total natural protein intake met or exceeded the Food and Agriculture Organization of the United Nations (FAO)/World Health Organization (WHO)/United Nations University (UNU) recommended safe levels. Median percentage fat mass was 17.6% in IVA, 20.7% in MMA/PA, 19.4% in UCD, and 17.8% in MSUD. There was a significant negative correlation between percentage fat mass and total protein intake in IVA, MMA/PA, and UCD (r = −0.737; P = .010). The correlation between the P:E ratio and growth variables in IVA, MMA/PA, and UCD suggest a safe P:E ratio (>1.5 to < 2.9) g protein:100 kcal/day.

Conclusion

Growth outcomes in inborn errors of intermediary protein metabolism are not always ideal. Most patients with IVA, MMA/PA, and UCD consume sufficient natural protein to meet FAO/WHO/UNU recommendations. A P:E ratio range of (>1.5 to < 2.9)g protein/100 kcal/day correlates with optimal growth outcomes.

Section snippets

Methods

This study was approved by the Royal Children's Hospital Human Research Ethic Committee (HREC: 30066B).

We collected longitudinal data on dietary intake and growth of patients born between 1976 and December 2014 (n = 75; 30 males, 45 females) with IVA (n = 7), MMA/PA (n = 14), UCD (n = 44), and classical MSUD (n = 10). Data were collected from medical and dietetic clinic records when patients were metabolically stable. Dietary data consisted of dietary recall, food diaries, and dietary history.

Results

Fifty-two of 75 (66%), 49 of 74 (68%), and 44 of 65 (68%) patients had a z-score of 0 (±1) for lifetime weight, height, and BMI, respectively (Table and Figure 1). Longitudinal growth patterns differed between the groups. Children with IVA had essentially normal growth patterns. In children with MMA/PA, median height z-scores were persistently less than −1 after 5 years of age. In children with UCD, growth patterns were normal, although male patients had significantly higher BMI z-scores than

Discussion

Growth patterns in inborn errors of intermediary protein metabolism may be affected by both disease pathophysiology and the nutritional adequacy of consumed or prescribed diets. In this study, we assessed dietary adequacy and explored associated nutritional outcomes to define an apparent safe P:E ratio to be used as an additional clinical tool in the management of these patients. A strength of our study is that the protein intake reported was the estimated amount actually consumed rather than

References (44)

  • J.A. Thomas et al.

    Apparent decreased energy requirements in children with organic acidemias: preliminary observations

    J Am Diet Assoc

    (2000)
  • D.S. Weigle et al.

    A high-protein diet induces sustained reductions in appetite, ad libitum caloric intake, and body weight despite compensatory changes in diurnal plasma leptin and ghrelin concentrations

    Am J Clin Nutr

    (2005)
  • P.B. Mikkelsen et al.

    Effect of fat-reduced diets on 24-h energy expenditure: comparisons between animal protein, vegetable protein, and carbohydrate

    Am J Clin Nutr

    (2000)
  • A.J.A.H. van Vught et al.

    Association between dietary protein and change in body composition among children (EYHS)

    Clin Nutr

    (2009)
  • D.K. Layman et al.

    A reduced ratio of dietary carbohydrate to protein improves body composition and blood lipid profiles during weight loss in adult women

    J Nutr

    (2003)
  • D. Paddon-Jones et al.

    Protein, weight management, and satiety

    Am J Clin Nutr

    (2008)
  • M.B. Gillingham et al.

    Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hyrdoxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency

    Mol Genet Metab

    (2007)
  • B. Williams et al.

    Metabolic acidosis and skeletal muscle adaptation to low protein diets in chronic uremia

    Kidney Int

    (1991)
  • M. Humphrey et al.

    New ways of defining protein and energy relationships in inborn errors of metabolism

    Mol Genet Metab

    (2014)
  • J. Haberle et al.

    Suggested guidelines for the diagnosis and management of urea cycle disorders

    Orphanet J Rare Dis

    (2012)
  • R. Posset et al.

    Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    J Inherit Metab Dis

    (2016)
  • V. Prietsch et al.

    Emergency management of inherited metabolic diseases

    J Inherit Metab Dis

    (2002)
  • Cited by (0)

    Portions of this study were presented at the ICIEM, Barcelona, Spain, September, 2013 and at the Genetic Metabolic Dietitians International Conference, Phoenix, Arizona, April, 2016.

    The authors declare no conflicts of interest.

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