Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.
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.
Mazur
Artur
A
Department of Physiotherapy, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland. drmazur@poczta.onet.pl
Jarochowicz
Sabina
S
Sykut-Cegielska
Jolanta
J
Gradowska
Wanda
W
Kwolek
Andrzej
A
Ołtarzewski
Mariusz
M
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