title: Bone development in children and adolescents with PKU.
abstract: BACKGROUND
  Individuals with phenylketonuria (PKU, OMIM 261600) have shown bone disease from childhood. Factors such as non-adherence to treatment, nutritional inadequacy, and high phenylalanine levels are associated with bone disease in several studies. This research aimed to describe the impact of dietary factors (consumption of energy, protein, calcium, phosphorus, and phenylalanine), and the control of plasma phenylalanine levels on bone age (BA) and bone mineral density (BMD).
  
  
  METHODS
  Thirteen patients of both genders, from 8 to 16 years old participated in this study. Control data were collected of phenylalanine levels, food frequency and record, hand and fist X-rays, and spinal bone densitometry.
  
  
  RESULTS
  In children group (CG), individuals non-adherent to diet (NAD) consumed lower amounts of calcium (472 ± 100 mg/day) and energy (1743 ± 486 Kcal); they had higher rates of phenylalanine (564 ± 94 μmol/L) in blood, intake phenylalanine (701 ± 334 mg/g), and higher protein intake from free foods (14 ± 6.67 g/day); bone age (BA) values higher than the chronological age (CA) and less BMD values (-0.7 ± 1.6 SD) also were verified. In adolescent group (AG, N = 8) of NAD, values were lower for energy intake (1379 ± 258 Kcal), calcium (801 ± 152 mg/day), phosphorus (657 ± 102 mg/day), food protein (25 ± 7.6 g/day), and intake phenylalanine (1067 ± 382 mg/day) than recommended. Higher levels of plasma phenylalanine (851 ± 244 μmol/L), bone age greater than chronological age and lower BMD values (-2.4 ± -2.5 SD) were observed.
  
  
  CONCLUSIONS
  The results suggest effects on BA and on BMD, in both children and adolescent groups. The bone development is expressed differently in children and adolescents. The non-adherence to the diet verified in both groups and the consequent imbalance in the nutrients intake involved in bone metabolism suggest that these factors influence the failure to thrive in children and reduced bone mineralization in adolescents.
authors.affiliation: Mestrado em Atenção Integrada à Saúde da Criança e do Adolescente, Faculdade de Medicina da Universidade Federal Fluminense, Santos Moreira Street, 89 / 7 Santa Rosa, 24241080 Niterói, Rio de Janeiro, Brazil. abarcellosmendes@yahoo.com.br
authors.forename: A B
authors.initials: AB
authors.lastname: Mendes
authors.forename: F F
authors.initials: FF
authors.lastname: Martins
authors.forename: W M S
authors.initials: WM
authors.lastname: Cruz
authors.forename: L E
authors.initials: LE
authors.lastname: da Silva
authors.forename: C B M
authors.initials: CB
authors.lastname: Abadesso
authors.forename: G T
authors.initials: GT
authors.lastname: Boaventura
mesh_terms: D000293:Adolescent; D015519:Bone Density; D001846:Bone Development; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D015362:Child Nutrition Disorders / Q000235:genetics; D053198:Child Nutrition Sciences; D003720:Densitometry / Q000379:methods; D004032:Diet; D002149:Energy Intake; D005260:Female; D006801:Humans; D008297:Male; D010349:Patient Compliance; D010649:Phenylalanine / Q000032:analysis / Q000097:blood; D010661:Phenylketonurias / Q000235:genetics* / Q000503:physiopathology; D014965:X-Rays
chemical_list: D010649:Phenylalanine
references.citation: J Inherit Metab Dis. 2007 Oct;30(5):694-9
references.pmid: 17628756
references.citation: Eur J Pediatr. 1996 Jul;155 Suppl 1:S121-4
references.pmid: 8828626
references.citation: Arq Bras Endocrinol Metabol. 2006 Aug;50(4):579-85
references.pmid: 17117283
references.citation: Acta Paediatr. 1999 Dec;88(12):1348-51
references.pmid: 10626520
references.citation: J Inherit Metab Dis. 2007 Apr;30(2):202-8
references.pmid: 17347917
references.citation: Am J Phys Anthropol. 1971 Nov;35(3):331-7
references.pmid: 4332696
references.citation: Acta Paediatr. 1994 May;83(5):534-41
references.pmid: 8086734
references.citation: Acta Paediatr. 2002;91(8):899-904
references.pmid: 12222712
references.citation: Eur J Pediatr. 2002 Dec;161(12):687-8
references.pmid: 12536994
references.citation: J Inherit Metab Dis. 2008 Dec;31(6):673-9
references.pmid: 18690552
references.citation: J Inherit Metab Dis. 2005;28(5):639-49
references.pmid: 16151894
references.citation: Am J Clin Nutr. 1992 May;55(5):997-1004
references.pmid: 1570811
references.citation: Rev Hosp Clin Fac Med Sao Paulo. 1966 Sep-Oct;21(5):217-25
references.pmid: 4296602
references.citation: Acta Paediatr. 1995 Jul;84(7):743-8
references.pmid: 7549290
references.citation: Osteoporos Int. 1999;10(4):259-64
references.pmid: 10692972
references.citation: J Inherit Metab Dis. 2008 Dec;31(6):718-23
references.pmid: 18941921