BACKGROUND: Isolated methylmalonic acidemia (MMA) is managed by dietary protein restriction and medical food supplementation. Resting energy expenditure (REE) can be depressed in affected individuals for undefined reasons. OBJECTIVE: The objective was to document the spectrum of nutritional approaches used to treat patients with MMA, measure REE, and analyze the dependence of REE on body composition, biochemical, and nutritional variables. DESIGN: Twenty-nine patients with isolated MMA (22 mut, 5 cblA, 2 cblB; 15 males, 14 females; age range: 2-35 y) underwent evaluation. REE was measured with open-circuit calorimetry and compared with predicted values by using age-appropriate equations. RESULTS: Nutritional regimens were as follows: protein restriction with medical food (n = 17 of 29), protein restriction with medical food and supplemental isoleucine or valine (n = 5 of 29), or the use of natural protein alone for dietary needs (n = 7 of 29). Most mut patients had short stature and higher percentage fat mass compared with reference controls. Measured REE decreased to 74 ± 13.6% of predicted (P < 0.001) in the ≤ 18-y group (n = 22) and to 83 ± 11.1% (P = 0.004) in patients aged >18 y (n = 7). Linear regression modeling suggested that age (P = 0.001), creatinine clearance (P = 0.01), and height z score (P = 0.04) accounted for part of the variance of measured REE per kilogram of fat-free mass (model R² = 0.66, P < 0.0001). CONCLUSIONS: There is wide variation in the dietary treatment of MMA. Standard predictive equations overestimate REE in this population primarily due to their altered body composition and decreased renal function. Defining actual energy needs will help optimize nutrition and protect individuals from overfeeding. This trial is registered at clinicaltrials.gov as NCT00078078.
BACKGROUND: Isolated methylmalonic acidemia (MMA) is managed by dietary protein restriction and medical food supplementation. Resting energy expenditure (REE) can be depressed in affected individuals for undefined reasons. OBJECTIVE: The objective was to document the spectrum of nutritional approaches used to treat patients with MMA, measure REE, and analyze the dependence of REE on body composition, biochemical, and nutritional variables. DESIGN: Twenty-nine patients with isolated MMA (22 mut, 5 cblA, 2 cblB; 15 males, 14 females; age range: 2-35 y) underwent evaluation. REE was measured with open-circuit calorimetry and compared with predicted values by using age-appropriate equations. RESULTS: Nutritional regimens were as follows: protein restriction with medical food (n = 17 of 29), protein restriction with medical food and supplemental isoleucine or valine (n = 5 of 29), or the use of natural protein alone for dietary needs (n = 7 of 29). Most mut patients had short stature and higher percentage fat mass compared with reference controls. Measured REE decreased to 74 ± 13.6% of predicted (P < 0.001) in the ≤ 18-y group (n = 22) and to 83 ± 11.1% (P = 0.004) in patients aged >18 y (n = 7). Linear regression modeling suggested that age (P = 0.001), creatinine clearance (P = 0.01), and height z score (P = 0.04) accounted for part of the variance of measured REE per kilogram of fat-free mass (model R² = 0.66, P < 0.0001). CONCLUSIONS: There is wide variation in the dietary treatment of MMA. Standard predictive equations overestimate REE in this population primarily due to their altered body composition and decreased renal function. Defining actual energy needs will help optimize nutrition and protect individuals from overfeeding. This trial is registered at clinicaltrials.gov as NCT00078078.
Authors: Lisa C Worgan; Kirsten Niles; Jamie C Tirone; Adam Hofmann; Andrei Verner; Alya'a Sammak; Terrence Kucic; Pierre Lepage; David S Rosenblatt Journal: Hum Mutat Date: 2006-01 Impact factor: 4.878
Authors: S Firouzbakhsh; R K Mathis; W L Dorchester; R S Oseas; P K Groncy; K E Grant; J Z Finklestein Journal: J Pediatr Gastroenterol Nutr Date: 1993-02 Impact factor: 2.839
Authors: Irini Manoli; Justin R Sysol; Madeline W Epping; Lina Li; Cindy Wang; Jennifer L Sloan; Alexandra Pass; Jack Gagné; Yiouli P Ktena; Lingli Li; Niraj S Trivedi; Bazoumana Ouattara; Patricia M Zerfas; Victoria Hoffmann; Mones Abu-Asab; Maria G Tsokos; David E Kleiner; Caterina Garone; Kristina Cusmano-Ozog; Gregory M Enns; Hilary J Vernon; Hans C Andersson; Stephanie Grunewald; Abdel G Elkahloun; Christiane L Girard; Jurgen Schnermann; Salvatore DiMauro; Eva Andres-Mateos; Luk H Vandenberghe; Randy J Chandler; Charles P Venditti Journal: JCI Insight Date: 2018-12-06
Authors: Irini Manoli; Justin R Sysol; Lingli Li; Pascal Houillier; Caterina Garone; Cindy Wang; Patricia M Zerfas; Kristina Cusmano-Ozog; Sarah Young; Niraj S Trivedi; Jun Cheng; Jennifer L Sloan; Randy J Chandler; Mones Abu-Asab; Maria Tsokos; Abdel G Elkahloun; Seymour Rosen; Gregory M Enns; Gerard T Berry; Victoria Hoffmann; Salvatore DiMauro; Jurgen Schnermann; Charles P Venditti Journal: Proc Natl Acad Sci U S A Date: 2013-07-29 Impact factor: 11.205
Authors: Marianna Caterino; Randy J Chandler; Jennifer L Sloan; Kenneth Dorko; Kristina Cusmano-Ozog; Laura Ingenito; Stephen C Strom; Esther Imperlini; Emanuela Scolamiero; Charles P Venditti; Margherita Ruoppolo Journal: Mol Biosyst Date: 2016-02
Authors: E H Baker; J L Sloan; N S Hauser; A L Gropman; D R Adams; C Toro; I Manoli; C P Venditti Journal: AJNR Am J Neuroradiol Date: 2014-09-04 Impact factor: 3.825