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. CONCLUSION: 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.
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 PKUpatients 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. CONCLUSION: 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.
Authors: S C J Huijbregts; L M J de Sonneville; F J van Spronsen; R Licht; J A Sergeant Journal: Neurosci Biobehav Rev Date: 2002-10 Impact factor: 8.989
Authors: V Abadie; J Berthelot; F Feillet; N Maurin; A Mercier; H Ogier de Baulny; L de Parscau Journal: Arch Pediatr Date: 2005-05 Impact factor: 1.180
Authors: V Leuzzi; M Tosetti; D Montanaro; C Carducci; C Artiola; C Carducci; I Antonozzi; M Burroni; F Carnevale; F Chiarotti; T Popolizio; G M Giannatempo; V D'Alesio; T Scarabino Journal: J Inherit Metab Dis Date: 2007-01-23 Impact factor: 4.750
Authors: Anna Hood; Jo Ann V Antenor-Dorsey; Jerrel Rutlin; Tamara Hershey; Joshua S Shimony; Robert C McKinstry; Dorothy K Grange; Shawn E Christ; Robert Steiner; Desiree A White Journal: Mol Genet Metab Date: 2014-11-13 Impact factor: 4.797
Authors: Priscila Nicolao Mazzola; Tatiele Nalin; Kamila Castro; Margreet van Rijn; Terry G J Derks; Ingrid D S Perry; Alberto Scofano Mainieri; Ida Vanessa D Schwartz Journal: Mol Genet Metab Rep Date: 2016-01-09
Authors: Zoë Hawks; Anna M Hood; Dov B Lerman-Sinkoff; Joshua S Shimony; Jerrel Rutlin; Daniel Lagoni; Dorothy K Grange; Desirée A White Journal: Neuroimage Clin Date: 2019-07-02 Impact factor: 4.881