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.
Subject(s)
Human Development , Phenylketonurias/complications , Phenylketonurias/diagnosis , Adult , Body Height , Body Weight , Female , Humans , Male , Microcephaly/epidemiology , Microcephaly/etiology , Middle Aged , Phenylketonurias/epidemiology , Poland/epidemiology , PrevalenceABSTRACT
The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.
