Assessment of basal metabolic rate and nutritional status in patients with gaucher disease type iii

Divair Doneda, Filippo P. Vairo, André L. Lopes, Álvaro Reischak-Oliveira, Pedro Schestatsky, Marino M. Bianchin, Cileide C. Moulin, Ida V.D. Schwartz

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Gaucher disease type III (GD III) is a rare form of GD characterized by neurological involvement and severe systemic disease. The objective of this study was to assess the nutritional status and energy metabolism of patients with GD III. Methods: The basal metabolic rate (BMR, measured by indirect calorimetry) and anthropometric parameters (height, weight, body mass index (BMI), and arm circumference) of three patients with GD III (p.L444P/L444P genotype) were assessed at different time points. The clinical severity of GD was assessed by means of physical examination, laboratory tests, imaging findings, and the severity scores proposed by Zimran (SSI) and Davies (SSNI). Results: The measured BMR of patients 1 (age 14 years, not on enzyme replacement therapy (ERT), SSI score 33, SSNI score 14.5), 2 (age 17 years, on ERT, SSI score 33, SSNI score 16), and 3 (age 20 years, on ERT, SSI score 33, SSNI score 7.5) was, respectively, 47%, 72%, and 15% higher than that estimated by the Harris–Benedict equation. Patients with a more severe phenotype had more marked hypermetabolism. Patients 1 and 2 had BMI-for-age z scores of −1.09 and −1.39, respectively, and height-for-age z scores of −4.27 and −3.02, respectively; patient 3 had a BMI of 24.7 kg/m2. Conclusion: All three patients showed hypermetabolism; however, the two patients with the highest BMR had more severe GD and were malnourished. Additional studies are warranted to assess whether hypermetabolism may be a biomarker of disease severity in GD.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages37-42
Number of pages6
DOIs
StatePublished - 2014

Publication series

NameJIMD Reports
Volume14
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Basal metabolic rate
  • Enzyme replacement therapy
  • Gauche disease
  • Indirect calorimetry
  • Neurological involvement

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Fingerprint Dive into the research topics of 'Assessment of basal metabolic rate and nutritional status in patients with gaucher disease type iii'. Together they form a unique fingerprint.

  • Cite this

    Doneda, D., Vairo, F. P., Lopes, A. L., Reischak-Oliveira, Á., Schestatsky, P., Bianchin, M. M., Moulin, C. C., & Schwartz, I. V. D. (2014). Assessment of basal metabolic rate and nutritional status in patients with gaucher disease type iii. In JIMD Reports (pp. 37-42). (JIMD Reports; Vol. 14). Springer. https://doi.org/10.1007/8904_2013_281