Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)

Campo, Karen; Castro, G.; Hamilton, Valerie; Cabello, Juan Francisco; Raimann, Erna; Arias, Carolina; Cornejo, Verónica

doi:10.1007/8904_2015_500

Cited by 7 publications

(13 citation statements)

References 22 publications

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“…A canopy was placed over the patient's head for at least 30 minutes, or until steady state was achieved. Steady state indicated the test was valid [7,8]. The indirect calorimeter calculated VO 2 and VCO 2 , which was then used to calculate the respiratory quotient and measured resting energy expenditure (MREE) using the modified Weir equation.…”

Section: Indirect Calorimetrymentioning

confidence: 99%

Energy Requirements of a Pediatric Lung Transplant Population

Leong¹,

Sheehan²,

Wong³

et al. 2016

J Pediatr Care

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Background: Comparison of estimated energy requirements using predictive equations (PBMR) to measured resting energy requirements (MREE) using indirect calorimetry is not widely investigated in the pediatric lung transplant (LTx) population. In this population, optimal nutrition delivery may promote appropriate weight gain post-transplantation. The purpose of this case series was to evaluate the difference between predicted and measured energy requirements pre-and post-transplant by comparing PBMR calculated by the World Health Organization (WHO) equation and MREE by indirect calorimetry. The secondary aim was to determine if the diagnosis of Cystic Fibrosis (CF) influenced energy expenditure. It was predicted that the majority of LTx children would have higher MREE than PBMR (denoted as % PBMR). The % PBMR value is relative to MREE. Methods and findings:After exclusion, there were 7 LTx patients (n=5 male, n=4 CF, median age 11.55, age range: 4-16 y) and 14 measurements (7 repeated measures). Measurements were conducted pre-or post-transplant. Pre-LTx patients (n=4 patients, n=2 CF) exhibited a median 106% PBMR (interquartile range: 24%). Post-LTx patients (n=3 patients, n=2 CF) exhibited a median 105% PBMR (24%). The median % PBMR did not differ significantly between CF and non-CF LTx children irrespective of transplant status (113% (22%), 103% (19%), respectively, P=0.12). Conclusion:These results suggest that MREE was higher than PBMR; the WHO equation may underestimate energy requirements for pre-and post-LTx children. There was a trend towards decreasing energy requirements post-LTx. In children post-LTx, the diagnosis of CF may not affect energy requirements.

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Section: Indirect Calorimetrymentioning

confidence: 99%

Energy Requirements of a Pediatric Lung Transplant Population

Leong¹,

Sheehan²,

Wong³

et al. 2016

J Pediatr Care

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“…Maple syrup urine disease (MSUD) is a rare autosomal recessive condition in which the metabolism of branched-chain amino acids (BCAAs) is severely impaired, resulting in a pathological buildup of BCAAs [1]. Pathologically increased accumulation of leucine in the brain and blood leads to metabolic decompensation [1]. The prevalence rate of MSUD hovers around 1 in 185,000 people globally, rendering it an exceedingly rare entity [1].…”

Section: Introductionmentioning

confidence: 99%

“…Pathologically increased accumulation of leucine in the brain and blood leads to metabolic decompensation [1]. The prevalence rate of MSUD hovers around 1 in 185,000 people globally, rendering it an exceedingly rare entity [1]. The clinical constellation of symptoms elicited by MSUD is categorized by encephalopathy, neurological developmental delays, and a peculiar maple syrup odor to the urine [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…The prevalence rate of MSUD hovers around 1 in 185,000 people globally, rendering it an exceedingly rare entity [1]. The clinical constellation of symptoms elicited by MSUD is categorized by encephalopathy, neurological developmental delays, and a peculiar maple syrup odor to the urine [1,2]. Upon further investigations, patients with MSUD are noted to have increased levels of branched ketoacids in the urine and elevated BCAA levels in the plasma [1].…”

Section: Introductionmentioning

confidence: 99%

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Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics

Rauf¹,

Almas²,

Ullah³

et al. 2020

Cureus

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Maple syrup urine disease, an inherited disorder of metabolism, is characterised by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD) enzyme, resulting in an accumulation of branched-chain amino acids. While it is classically diagnosed by the means of a neonatal screening panel, it can sometimes remain undetected. In such cases, maple syrup urine disease is noted to elicit a constellation of clinical symptoms characterised by a plethora of neurological and respiratory impairments. A prompt diagnosis and management of the disease therefore remains imperative. Due to the remarkable semblance in the clinical symptoms elicited by maple syrup urine disease and urea cycle disorders, both the ailments should be considered in the list of differential diagnosis in patients presenting with elevated serum ammonia levels in the context of the overarching clinical picture. We chronicle the case of a 25-day-old neonate who presented with unabated seizures. An initial diagnosis of a urea cycle disorder was suspected; however, further diagnostic workup divulged an underlying diagnosis of maple syrup urine disease.

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“…However, the FAO/WHO/UNU suggestions are based on results obtained in healthy individuals and might not completely apply to ASA or other UCD patients. There are reports in the literature showing that resting energy expenditure (REE) measured by indirect calorimetry (IC) is different from normal in patients with inborn errors of metabolism like organic acidosis, maple syrup urine disease and fatty acid oxidation defects . No data are available on REE in UCD.…”

Section: Introductionmentioning

confidence: 99%

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders

Brambilla

Bianchi

Cancello

et al. 2019

J of Inher Metab Disea

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No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when treated with apparently adequate energy intake, while the other UCD do not. The aim of this study was to evaluate anthropometric parameters, body composition, risk of metabolic syndrome (MS) and resting energy expenditure (REE), both by indirect calorimetry (IC) and predictive equations, in UCD patients. Hypertension (5/13), pathological waist circumference-to-height ratio (WtHr) (6/13), hypertriglyceridemia (12/13), reduced HDL cholesterol (12/13), and MS (5/13) were found in ASA group. In the ASA cohort, the mean and median IC-REE were 88% of what was predicted by Food and Agriculture Organization of the United Nations and Harris-Benedict equations. The "other UCD" cohort did not show hypertension, dyslipidaemia nor MS; IC-REE was similar to the REE predicted by equations. A significant difference was seen for the presence of hypertension, dyslipidaemia, pathological WtHr, MS and IC-REE/predictive equations-REE in the two cohorts. ASA patients have a risk of overfeeding if their energy requirement is not assessed individually with IC. Excessive energy intake might increase the cardiovascular risk of ASA patients. We suggest to test ASA individuals with IC every year if the patient is sufficiently collaborative. We speculate that most of the features seen in ASA patients might Abbreviations: ASA, argininosuccinic aciduria; ASL, argininosuccinate lyase; ATP, adult treatment panel; BMI, body mass index; DXA, dualenergy X-ray absorptiometry; FAO, Food and Agriculture Organization of the United Nations; FAO-REE, resting energy expenditure estimated by FAO equation; FM, fat mass; HB-REE, resting energy expenditure estimated by Harris-Benedict equation; HOMA, homeostatic model assessment; IC, indirect calorimetry; IC-REE, resting energy expenditure measured by indirect calorimetry; IC-REE/FAO-REE, ratio of IC-REE to prediction by FAO equation; IC-REE/HB-REE, ratio of IC-REE to prediction by Harris-Benedict

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Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)

Abstract: Energy recommendations for MSUD children are according to energy expenditure; thus the use of WHO equation is a clinically and statistically feasible tool for its determination.

Cited by 7 publications

References 22 publications

Energy Requirements of a Pediatric Lung Transplant Population

Energy Requirements of a Pediatric Lung Transplant Population

Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders

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