Phenylketonuria in Adulthood
Authors:
D. Procházková 1; P. Konečná 1; L. Kolbová 1; E. Hrabincová 2; H. Vinohradská 3; H. Hrstková 1
Authors place of work:
1. dětská interní klinika LF MU a FN Brno
přednostka prof. MUDr. H. Hrstková, CSc.
1; Centrum molekulární biologie a genové terapie IHOK FN Brno
přednosta prof. MUDr. J. Vorlíček, CSc.
2; Oddělení klinické biochemie FN Brno
primář doc. MUDr. M. Dastych, CSc.
3
Published in the journal:
Čes-slov Pediat 2008; 63 (11): 601-605.
Category:
Original Papers
Summary
One hundred adult patients with phenylketonuria (PKU) and hyperphenylalaninemia (HPA) aged from 18 to 43 years were examined. 55% of patients with PKU were not on a low-protein diet. 45% of them kept the diet but 22.2 % had the phenylalanine blood level higher than 20 mg/dl.
The educational attainment of patients:
66.2% of patients were apprenticed, 21.7% of them finished their secondary school, 1.2% finished college and 1.2% finished university studies. 6% of patients attended special-needs school and 3.6 % of them were unable to educate.
The body mass index (BMI) of female patients was 23.6 ± 0.05 (16.8–43.6). BMI of male patients was 24.0 ± 0.8 (16.7–38.9). The 7.4 % of female patients and 13.0 % of male patients had the BMI >30.
In the case of interruption or extenuation of the diet eleven patients (from 18 to 38 years old patients, 8 women and 3 men) restarted a low-protein diet because of following problems: body wasting, angst, breathlessness, anxious disorder and insomnia requiring psychiatric medication, activity disorder, migraine. One female patient was treated for mycosis fungoides. The most frequently observed mutations were p.R408W (41.7 % of patients), p.R158Q (16.7%) and p. R261Q (8.3%).
Key words:
PKU, adulthood, education, BMI, low-protein diet
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2008 Číslo 11
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