Adults with early diagnosis of phenylketonuria have higher resting energy expenditure than adults with late diagnosis

Abstract

Introduction: To date, there is a gap regarding resting energy expenditure (REE) in adults with phenylketonuria (PKU), whether PKU type and time of diagnosis interfere with REE, and whether the available predictive equations are valid in this population.

Objective: To compare the REE of adult subjects with PKU with healthy subjects and secondarily, examine the REE of adults with PKU according to type and time of diagnosis, and check the agreement of commonly used predictive equations of REE.

Methods: Concordance study with adults with PKU and a comparison group (CG) with healthy adults. Anthropometric and body composition assessments and REE assessment by indirect calorimetry (IC) were performed. The results obtained by IC were compared with predictive equations.

Results: Sixty-nine adults were evaluated (PKU: 36; CG: 33). The REE of adults with mild and classic PKU is similar (p>.05) and similar to CG (p>.05). The REE of individuals with early diagnosis is higher (p < .05) than the REE of individuals with late diagnosis. The REE obtained by IC differed (p < .05) from all estimated REE.

Conclusion: Late diagnosis of PKU showed lower REE compared to individuals with early diagnosis. The REE of adults with PKU does not differ in relation to the type of PKU, nor does it differ from the CG. Predictive equations overestimate REE.

Keywords: Body composition; Classic phenylketonuria; Early diagnosis; Indirect calorimetry; Late diagnosis; Prediction equations.