Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients

BackgroundThe etiology of reduced bone mineral density (BMD) in phenylketonuria (PKU) is unknown. Reduced BMD may be inherent to PKU and/or secondary to its dietary treatment.Materials and methodsLumbar BMD was measured by dual-energy X-ray absorptiometry in 53 early and continuously treated PKU patients (median age 16, range 2–35 years). First, Z-scores of BMD were correlated to age group, clinical severity of PKU, mean phenylalanine (Phe) concentration and Phe variation in the year prior to DXA scanning, as well as to blood vitamin, mineral, and alkaline phosphatase concentrations. Second, parameters were compared between subjects with reduced BMD (Z-score < − 2 SD) and subjects with normal BMD.ResultsBMD was significantly reduced in our cohort (p = 0.000). Z-scores of BMD were neither significantly correlated to age group, nor clinical severity of PKU. Both mean Phe concentration and Phe variation in the year prior to DXA scanning did not significantly correlate with Z-scores of BMD. Higher blood calcium concentrations were significantly associated with lower BMD (r2 = − 0.485, p = 0.004). Other biochemical parameters, including vitamin B12 availability markers, did not show significant correlations with Z-score of BMD. Subjects with reduced BMD had significantly higher blood phosphorus concentrations than subjects with normal BMD (p = 0.009). No other significant differences were found between both BMD groups.ConclusionReduced BMD in PKU is present from early age onward and does not progress with age. Therefore, BMD deserves attention from early age onward in PKU patients. Our findings are consistent with increased bone turnover in PKU. It remains unclear whether reduced BMD is inherent to PKU and/or secondary to its dietary treatment.

► Reduced lumbar bone mineral density (BMD) in PKU patients from early age onward. ► Unclear whether reduced BMD is inherent to PKU and/or treatment-related. ► Reduced BMD unrelated to functional vitamin B12 deficiency. ► In PKU treatment, reduced BMD in children deserves more attention.