Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia.

ABSTRACT:

Background

There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).

Objectives

We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.

Patients and methods

The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.

Results

SUBMITTER: Doulgeraki A 

PROVIDER: S-EPMC4166007 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature