Bone Status in Patients with Phenylketonuria: A Systematic Review.
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal outcomes have been reported, including bone mineral disease. In this systematic review, we summarize the available evidence on bone health in PKU patients, including data on bone mineral density (BMD) and bone turnover marker data. Data from cohort and cross-sectional studies of children and adults (up to 40 years of age) were obtained by searching the MEDLINE and SCOPUS databases following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. For each selected study, quality assessment was performed applying the Risk Of Bias In Non-randomized Studies of Interventions (ROBINS I) tool. We found that mean BMD was lower in PKU patients than in reference groups, but was within the normal range in most patients when expressed as Z-score values. Furthermore, data revealed a trend towards an imbalance between bone formation and bone resorption, favoring bone removal. Data on serum levels of minerals and hormones involved in bone metabolism were very heterogeneous, and the analyses were inconclusive. Clinical trials that include the analysis of fracture rates, especially in older patients, are needed to gather more evidence on the clinical implications of lower BMD in PKU patients.
['de Castro|María José|MJ|', 'de Lamas|Carmela|C|0000-0001-7910-3261', 'Sánchez-Pintos|Paula|P|', 'González-Lamuño|Domingo|D|0000-0002-7578-241X', 'Couce|María Luz|ML|0000-0003-4861-9905']
D000293:Adolescent D000328:Adult D015519:Bone Density D016723:Bone Remodeling D001862:Bone Resorption D001842:Bone and Bones D002648:Child D015331:Cohort Studies D003430:Cross-Sectional Studies D018753:Diet, Protein-Restricted D005260:Female D050723:Fractures, Bone D006801:Humans D008297:Male D010012:Osteogenesis D010649:Phenylalanine D010661:Phenylketonurias D055815:Young Adult
bone bone mineral density bone turnover markers fractures hyperphenylalaninemia osteopenia