Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study

Bone alterations in phenylketonuria (PKU) have been detected, especially with increasing age, in several studies by using different radiologic techniques. Quantitative ultrasound (QUS) assesses skeletal status by measuring the amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT), mainly dependent on mineral density and cortical thickness. Bone condition in 30 children and adolescents (mean age 15.1 +/- 6.4 y) affected by PKU was evaluated by phalangeal QUS, considering its relationship with their clinical, biochemical and therapeutic features. Measured AD-SoS Z-Score and BTT Z-Score were 0.27 +/- 1.42 and -0.26 +/- 1.21, respectively. In patients with previous fractures, the two QUS parameters were lower than in patients without history of fracture (p < 0.001 and p = 0.006, respectively). AD-SoS Z-Score and BTT Z-Score were negatively correlated with plasma phenylalanine (Phe) concentration in the year before QUS (p = 0.005 and p < 0.001, respectively) and with age (p < 0.001 for both parameters). These results parallel the previous findings obtained by different radiologic tools and suggest phalangeal QUS as an attractive option for the regular evaluation and longitudinal monitoring of bone condition in children and adolescents affected by PKU.