Original Paper

Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria
Artur Mazur^a, Sabina Jarochowicz^a, Jolanta Sykut-Cegielska^b, Wanda Gradowska^b, Andrzej Kwolek^a, Mariusz Ołtarzewski<sup>c

a</sup>Department of Physiotherapy, Faculty of Medicine, University of Rzeszów, Rzeszów,
^bDepartments of Metabolic Diseases, Endocrinology and Diabetology, Children’s Memorial Health Institute Warsaw, and
^cNational Research Institute of Mother and Child, Warsaw, Poland

Address of Corresponding Author

Med Princ Pract 2010;19:46-50 (DOI: 10.1159/000252834)

  Key Words

• Phenylketonuria, adult
• Phenylketonuria, untreated
• Somatic development

  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. Conclusion: 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.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Artur Mazur, MD, PhD
Institute of Physiotherapy, University of Rzeszów
ul. Warszawska 26a
PL–35-205 Rzeszów (Poland)
Tel. +48 178 664 244, Fax +48 178 664 145, E-Mail drmazur@poczta.onet.pl

  Article Information

Received: October 12, 2008
Revised: March 16, 2009
Published online: December 09, 2009
Number of Print Pages : 5
Number of Figures : 2, Number of Tables : 2, Number of References : 20