TY - CHAP
T1 - Assessment of basal metabolic rate and nutritional status in patients with gaucher disease type iii
AU - Doneda, Divair
AU - Vairo, Filippo P.
AU - Lopes, André L.
AU - Reischak-Oliveira, Álvaro
AU - Schestatsky, Pedro
AU - Bianchin, Marino M.
AU - Moulin, Cileide C.
AU - Schwartz, Ida V.D.
N1 - Funding Information:
Acknowledgments The authors would like to thank the Graduate Program in Medicine: Medical Sciences at the School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS); the staff of Centro de Referência Estadual para diagnóstico, acompanhamento e tratamento dos pacientes com Doença de Gaucher do Rio Grande do Sul (Rio Grande do Sul State Referral Center for Diagnosis, Monitoring and Treatment of Gaucher Disease); and the Hospital de Clínicas de Porto Alegre Research and Event Incentive Fund (FIPE/HCPA).
Funding Information:
The authors would like to thank the Graduate Program in Medicine: Medical Sciences at the School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS); the staff of Centro de Referência Estadual para diagnóstico, acompanhamento e tratamento dos pacientes com Doença de Gaucher do Rio Grande do Sul (Rio Grande do Sul State Referral Center for Diagnosis, Monitoring and Treatment of Gaucher Disease); and the Hospital de Clínicas de Porto Alegre Research and Event Incentive Fund (FIPE/HCPA).
Publisher Copyright:
© 2013, SSIEM and Springer-Verlag Berlin Heidelberg.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - Basal metabolic rate
KW - Enzyme replacement therapy
KW - Gauche disease
KW - Indirect calorimetry
KW - Neurological involvement
UR - http://www.scopus.com/inward/record.url?scp=85060286751&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85060286751&partnerID=8YFLogxK
U2 - 10.1007/8904_2013_281
DO - 10.1007/8904_2013_281
M3 - Chapter
AN - SCOPUS:85060286751
T3 - JIMD Reports
SP - 37
EP - 42
BT - JIMD Reports
PB - Springer
ER -