Bone mineral density in patients with phenylketonuria.

Abstract

Dual energy X-ray absorptiometry was performed in 44 patients with phenylketonuria (PKU) aged 6-29 y. The phenylalanine-restricted diet was based on a low-protein diet in combination with phenylalanine-free amino acid mixtures and phenylalanine-low casein hydrolysate in 32 patients. The 10 oldest patients were supplemented only with casein hydrolysate, and the youngest child received only the amino acid mixture. One patient has recently come off the diet. Bone mineral density (BMD) of the lumbar spine and total BMD were measured and expressed as Z-score, i.e. the difference between the BMD of the patient and the average BMD of sex- and age-matched controls divided by the standard deviation of the control group. Normal BMD was found in 24 (54%) patients. Lumbar spine BMD was decreased in 20 patients and total BMD was decreased in 14 patients. Z-scores of -1to 2.5 were found in 14 patients (32%) and Z-scores of <-2.5 in 6 patients (14%). No significant correlation was found between total or lumbar spine BMD and daily intake of phenylalanine from natural sources in the low-protein diet or the amount of phenylalanine-free amino acid mixtures per kg of body weight. A significant negative correlation was observed between both total and lumbar spine BMD Z-scores and the amount of casein hydrolysate supplementation per kg of body weight (r = - 0.45; y = 0.07 - 0.69x; p < 0.01). Long-lasting dietary restriction in patients with PKU may increase the risk of late complications of dietary therapy, such as osteoporosis or trace element deficiency. O Bone mineral density, osteoporosis, phenylalanine-low diet, phenylketonuria