title: [Bone mineral turnover and bone densitometry in patients with a high-risk diet: hyperphenylalaninemia and galactosemia].
abstract: BACKGROUND
  Patients with any type of congenital metabolism error are at risk for developing osteoporosis. To gain further insight into the physiopathology of this disease, we studied bone mineral turnover in 10 children with hyperphenylalaninemia, seven with phenylketonuria and six with galactosemia. Oral intake was strictly controlled and the children followed recommendations for physical exercise.
  
  
  METHODS
  Markers of bone resorption (hydroxyproline and pyridinoline in urine samples) and markers of bone formation (levels of osteocalcin and C-terminal procollagen peptide type I) were analyzed. Bone mineral density was analyzed by ultrasound densitometry.
  
  
  RESULTS
  A non-significant reduction in bone densitometry with respect to the normal population was observed. Bone mineral turnover was slightly diminished in patients with phenylketonuria but was within the normal range in patients with hyperphenylalaninemia and galactosemia.
  
  
  CONCLUSIONS
  Adequate control of dietary intake of both proteins and minerals, as well as a healthy lifestyle, can prevent the development of significant alterations in bone mineralization.
authors.affiliation: Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Fernández Espuelas
authors.forename: G
authors.initials: G
authors.lastname: Manjón Llorente
authors.forename: J M
authors.initials: JM
authors.lastname: González López
authors.forename: M P
authors.initials: MP
authors.lastname: Ruiz-Echarri
authors.forename: A
authors.initials: A
authors.lastname: Baldellou Vázquez
mesh_terms: D000293:Adolescent; D015519:Bone Density; D001862:Bone Resorption / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D004032:Diet; D005260:Female; D005693:Galactosemias / Q000503:physiopathology*; D006801:Humans; D008297:Male; D010661:Phenylketonurias / Q000503:physiopathology*