Original Article
Early Clinical Manifestations and Eating Patterns in Patients with Urea Cycle Disorders

Presented in part as a poster at the Symposium of the Society for the Study of Inborn Errors of Metabolism August 31-September 3, 2010, Istanbul, Turkey.
https://doi.org/10.1016/j.jpeds.2012.02.006Get rights and content
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Objectives

To characterize dietary habits and eating patterns in patients with a urea cycle disorder (UCD), and to identify dietary habits that may serve as clues to lead to earlier diagnosis of these disorders.

Study design

This was a retrospective study of clinical and dietary data from hospital records of all patients with UCD (n = 90) attending the Royal Children's Hospital in Melbourne between 1972 and 2010.

Results

Protein aversion, food refusal, frequent vomiting, poor appetite, and adverse reaction to high-protein–containing foods were documented in the majority of patients with available detailed dietary protein intake data. Fourteen of the 90 admissions for metabolic deterioration in which information regarding the precipitating factor(s) were available were directly related to protein intake (5 higher and 9 lower than prescribed).

Conclusion

Protein aversion is a common feature of UCD and may serve as a diagnostic clue in patients presenting with food refusal, recurrent vomiting, behavioral problems, mental retardation, and “unexplained” episodes of altered consciousness. Dietary history should be included in the investigation of these symptoms, which might lead to earlier diagnosis. Metabolic decompensation is more frequently related to low energy/protein intake than to high protein intake in these patients. Special attention should be given to protein aversion, which often leads to eating patterns that make it difficult for a patient to achieve the prescribed daily protein requirement.

ASL
Argininosuccinic acid lyase
ASS
Argininosuccinic acid synthetase
CPS1
Carbamoyl phosphate synthetase 1
OTC
Ornithine transcarbamylase
UCD
Urea cycle disorder

Cited by (0)

Supported by the Victorian Government's Operational Infrastructure Support Program. The authors declare no conflicts of interest.