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Resting energy expenditure and substrate oxidation in malnourished patients with type 1 glycogenosis.

Abstract

CONTEXT

Type 1a and 1b glycogenosis (GSD1a, GSD1b) are rare diseases generally associated with malnutrition. Although abnormal substrate oxidation rates and/or elevated energy expenditures might contribute to malnutrition, this issue has not been investigated.

OBJECTIVE

To investigate whether abnormal resting energy expenditure and substrate oxidation rate characterize patients with GSD1.

DESIGN

Cross-sectional study.

SETTING

Outpatient referral center for rare diseases and laboratory of clinical nutrition at the university hospital of Palermo (Italy).

PATIENTS

Five consecutive patients with GSD1 (4 type a, 1 type b), 3 males/2 females, age range 19-49 years.

MAIN OUTCOME MEASURES

In the context of usual clinical procedures for patients with malnutrition, resting energy expenditure (REE, indirect calorimetry), basal substrate oxidation rate (indirect calorimetry), body composition (bioimpedance method), muscle strength (hand-grip test) and usual laboratory tests were performed.

RESULTS

Malnutrition was clearly diagnosed in 2 patients (1 GSD1a and 1 GSD1b), and REE was elevated in all 5 patients but in particular in the 2 malnourished patients (+124% and +32.1% versus predictive values according to Harris-Benedict equations). The 2 malnourished patients also exhibited lower basal protein oxidation rates (7.7% and 6.6%) than the non-malnourished patients (range: 12.1-24.7%), with higher carbohydrate or lipid oxidation rates. Additionally, the 2 patients with malnutrition exhibited higher blood concentrations of lactic acid than the non-malnourished patients.

CONCLUSIONS

According to data obtained in this small sample of patients with GSD1, an elevated REE seems to be a common characteristic that may contribute to malnutrition. A low basal protein oxidation rate and elevated blood lactic acid concentrations appear to be associated with malnutrition.

Authors+Show Affiliations

Unit of Malattie Endocrine, del Ricambio e della Nutrizione - Laboratorio di Metabolismo e Nutrizione Clinica.Unit of Astanteria/MCAU - Centro di Riferimento Regionale per le Malattie Rare del Metabolismo.Unit of Malattie Endocrine, del Ricambio e della Nutrizione - Laboratorio di Metabolismo e Nutrizione Clinica.Unit of Malattie Endocrine, del Ricambio e della Nutrizione - Laboratorio di Metabolismo e Nutrizione Clinica.Unit of Malattie Endocrine, del Ricambio e della Nutrizione - Laboratorio di Metabolismo e Nutrizione Clinica.Unit of Malattie Endocrine, del Ricambio e della Nutrizione - Laboratorio di Metabolismo e Nutrizione Clinica.Unit of Astanteria/MCAU - Centro di Riferimento Regionale per le Malattie Rare del Metabolismo.Unit of Astanteria/MCAU - Centro di Riferimento Regionale per le Malattie Rare del Metabolismo.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31322653

Citation

Buscemi, Silvio, et al. "Resting Energy Expenditure and Substrate Oxidation in Malnourished Patients With Type 1 Glycogenosis." The Journal of Clinical Endocrinology and Metabolism, 2019.
Buscemi S, Noto D, Buscemi C, et al. Resting energy expenditure and substrate oxidation in malnourished patients with type 1 glycogenosis. J Clin Endocrinol Metab. 2019.
Buscemi, S., Noto, D., Buscemi, C., Barile, A. M., Rosafio, G., Settipani, V., ... Averna, M. (2019). Resting energy expenditure and substrate oxidation in malnourished patients with type 1 glycogenosis. The Journal of Clinical Endocrinology and Metabolism, doi:10.1210/jc.2019-00585.
Buscemi S, et al. Resting Energy Expenditure and Substrate Oxidation in Malnourished Patients With Type 1 Glycogenosis. J Clin Endocrinol Metab. 2019 Jul 19; PubMed PMID: 31322653.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Resting energy expenditure and substrate oxidation in malnourished patients with type 1 glycogenosis. AU - Buscemi,Silvio, AU - Noto,Davide, AU - Buscemi,Carola, AU - Barile,Anna Maria, AU - Rosafio,Giuseppe, AU - Settipani,Valentina, AU - Giammanco,Antonina, AU - Averna,Maurizio, Y1 - 2019/07/19/ PY - 2019/03/12/received PY - 2019/07/15/accepted PY - 2019/7/20/entrez JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. N2 - CONTEXT: Type 1a and 1b glycogenosis (GSD1a, GSD1b) are rare diseases generally associated with malnutrition. Although abnormal substrate oxidation rates and/or elevated energy expenditures might contribute to malnutrition, this issue has not been investigated. OBJECTIVE: To investigate whether abnormal resting energy expenditure and substrate oxidation rate characterize patients with GSD1. DESIGN: Cross-sectional study. SETTING: Outpatient referral center for rare diseases and laboratory of clinical nutrition at the university hospital of Palermo (Italy). PATIENTS: Five consecutive patients with GSD1 (4 type a, 1 type b), 3 males/2 females, age range 19-49 years. MAIN OUTCOME MEASURES: In the context of usual clinical procedures for patients with malnutrition, resting energy expenditure (REE, indirect calorimetry), basal substrate oxidation rate (indirect calorimetry), body composition (bioimpedance method), muscle strength (hand-grip test) and usual laboratory tests were performed. RESULTS: Malnutrition was clearly diagnosed in 2 patients (1 GSD1a and 1 GSD1b), and REE was elevated in all 5 patients but in particular in the 2 malnourished patients (+124% and +32.1% versus predictive values according to Harris-Benedict equations). The 2 malnourished patients also exhibited lower basal protein oxidation rates (7.7% and 6.6%) than the non-malnourished patients (range: 12.1-24.7%), with higher carbohydrate or lipid oxidation rates. Additionally, the 2 patients with malnutrition exhibited higher blood concentrations of lactic acid than the non-malnourished patients. CONCLUSIONS: According to data obtained in this small sample of patients with GSD1, an elevated REE seems to be a common characteristic that may contribute to malnutrition. A low basal protein oxidation rate and elevated blood lactic acid concentrations appear to be associated with malnutrition. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/31322653/Resting_energy_expenditure_and_substrate_oxidation_in_malnourished_patients_with_type_1_glycogenosis L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2019-00585 DB - PRIME DP - Unbound Medicine ER -