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

Alessandra Brambilla, Maria L. Bianchi, Raffaella Cancello, Cinzia Galimberti, Serena Gasperini, Roberta Pretese, Miriam Rigoldi, Serena Tursi, Rossella Parini

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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 depend on an imbalance of Krebs cycle. Further studies are needed to verify this hypothesis.

Original languageEnglish
Pages (from-to)1105-1117
Number of pages13
JournalJournal of Inherited Metabolic Disease
Issue number6
Publication statusPublished - Nov 1 2019


  • Argininosuccinic aciduria
  • dyslipidaemia and argininosuccinic aciduria
  • metabolic syndrome and argininosuccinic aciduria
  • resting energy expenditure
  • resting energy expenditure and argininosuccinic aciduria
  • urea cycle disorders

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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