title: Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.
abstract: OBJECTIVE
  To evaluate physical growth, development and nutritional status in adults with previously undiagnosed/ untreated phenylketonuria (PKU).
  
  
  METHODS
  Four hundred adults (201 females and 199 males) with severe intellectual disability who were born prior to compulsory neonatal screening (before 1976) and who resided in social welfare homes in southeastern Poland were screened for PKU. The screening was performed by blood test using a tandem mass spectrometry method (MS/MS) and was confirmed by analysis of organic acids in urine. Eleven were identified as previously undiagnosed and/or untreated PKU cases. They underwent an assessment of their somatic development/status.
  
  
  RESULTS
  Among the 11 PKU patients (4 females and 7 males) the following characteristics were observed: poor physical growth after somatic development (n = 8, 2 females aged 23 and 56 years and 6 males aged 28-59 years); decreased head circumference - microcephaly (n = 5, 1 female aged 56 years and 4 males aged 28-59 years); poor body height (n = 2, 1 female aged 23 years and 1 male aged 59 years); poor thoracic circumference (n = 9, 3 females aged 23-56 years and 6 males aged 28-59 years). Overall, body weight imbalance was noted in 9 (81.8%) patients and irregularity of body proportions in 6 (54.5%) patients.
  
  
  CONCLUSIONS
  Our data showedthe importance of nutritional surveillance and impact of metabolic imbalance on physical growth and body stature in untreated PKU patients. We therefore recommend an adequate and individually planned introduction of dietary intervention among that group of patients in order to ameliorate its nutritional status, general fitness and health.
authors.affiliation: Department of Physiotherapy, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland. drmazur@poczta.onet.pl
authors.forename: Artur
authors.initials: A
authors.lastname: Mazur
authors.forename: Sabina
authors.initials: S
authors.lastname: Jarochowicz
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.forename: Wanda
authors.initials: W
authors.lastname: Gradowska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kwolek
authors.forename: Mariusz
authors.initials: M
authors.lastname: Ołtarzewski
mesh_terms: D000328:Adult; D001827:Body Height; D001835:Body Weight; D005260:Female; D006803:Human Development; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000453:epidemiology / Q000209:etiology; D008875:Middle Aged; D010661:Phenylketonurias / Q000150:complications* / Q000175:diagnosis* / Q000453:epidemiology; D011044:Poland / Q000453:epidemiology; D015995:Prevalence