Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful.
BACKGROUND
In untreated patients, phenylketonuria (PKU) results in severe encephalopathy with mental retardation. A protein-restricted diet is recommended which can be relaxed in adolescence/adulthood.


METHODS
We contacted all 72 adult/adolescent PKU patients who had been treated in our center during early childhood. Some still regularly attended our outpatient clinics, while others were lost for follow-up, giving 51 patients in our study. We asked all patients to complete a dietary protocol as well as a questionnaire on quality of life. Blood and urine were analyzed and body impedance plethysmography and cerebral MRI were performed.


RESULTS
42 % of the patients followed protein restriction supplemented with amino acid mixtures (AAM), others had a vegan diet with (8 %) or without (14 %) AAM; 36 % said they were eating normally and did not need any AAM. However, based on dietary protocols and blood urea levels, protein intake was restricted in this patient group. None of the patients examined had serious nutritional deficits. Phenylalanine levels were higher in patients not taking AAM. MRI of the brain was not different from those following protein restriction and taking AAM. The lesions score and mood correlated best with the cumulative phenylalanine values during the first 10 years of life.


CONCLUSIONS
In summary, 50 % of adult/adolescent patients from our center did not take AAM at the start of our survey although they unknowingly followed self-imposed protein restriction. They had no overt nutritional deficits; however, long-term brain function may be compromised. Our study emphasizes the need for specialized metabolic care in PKU during adulthood.
Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Carl-Neuberg- Str. 1, D- 30625, Hannover, Germany, das.anibh@mh-hannover.de.
A M
AM
Das
K
K
Goedecke
U
U
Meyer
N
N
Kanzelmeyer
S
S
Koch
S
S
Illsinger
T
T
Lücke
H
H
Hartmann
K
K
Lange
H
H
Lanfermann
L
L
Hoy
X-Q
XQ
Ding