ABSTRACT
OBJECTIVE: To investigate micronutrient supply in phenylketonuria (PKU) patients on a relaxed diet. SUBJECTS/METHODS: Sixty-seven patients (6-45 years) with a phenylalanine tolerance ≥ 600 mg/day were included in the study. From a 3-day diet record, protein supply as well as consumption of essential amino acids and several micronutrients were assessed and compared with the current recommendations and data for the healthy population. RESULTS: Protein supply and consumption of all essential amino acids were sufficient in all patients. Supply of micronutrients depended on dietary regime. Patients with a total protein supply of 120% or more of the recommended amount and at least 0.5 g protein per kg body weight from amino-acid mixture (AAM) were sufficiently supplied with all investigated micronutrients. All patients without AAM supplement showed severe micronutrient deficiencies in their diet records. CONCLUSION: PKU patients under a relaxed diet are at risk of an insufficient nutrient supply, if they have first no substitution with AAM, second a protein supply less than 0.5 g per kg body weight from AAM or third a total protein supply less than 120% of the recommendations. Therefore, close monitoring, specific dietary counseling and potential supplementation is mandatory to prevent micronutrient deficiencies in PKU patients.
Subject(s)
Diet , Dietary Supplements , Micronutrients/administration & dosage , Micronutrients/deficiency , Phenylalanine/administration & dosage , Phenylketonurias/diet therapy , Adolescent , Adult , Amino Acids/administration & dosage , Body Weight , Child , Cross-Sectional Studies , Diet Records , Dietary Proteins/administration & dosage , Humans , Middle Aged , Young AdultABSTRACT
In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).
Subject(s)
Biopterins/analogs & derivatives , Biopterins/therapeutic use , Phenylketonurias/drug therapy , Female , Humans , Infant, Newborn , Male , Neonatal Screening , Phenylalanine/blood , Phenylalanine Hydroxylase/blood , Phenylalanine Hydroxylase/deficiency , Retrospective StudiesABSTRACT
Recent results of research appear to show that over the past few years, clearly more restrictive dietary recommendations have become accepted in the treatment of phenylketonuria (PKU). A lifelong diet low in phenylalanine is the goal, since poor dietary discipline can lead to an appreciable decrease in the level of intelligence and, in rare cases, to severe neurological deficits. Furthermore, neuropsychological symptoms as sequelae of current high serum phenylalanine levels also occur. In the present study, the question as to the development of intelligence and compliance with diet was investigated. The results underscore the need for continuing adherence to a diet on the one hand, and for continuous psychosocial support on the other.
Subject(s)
Intelligence , Patient Compliance/psychology , Phenylalanine/administration & dosage , Phenylketonurias/diet therapy , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Health Knowledge, Attitudes, Practice , Humans , Male , Phenylalanine/blood , Phenylketonurias/genetics , Phenylketonurias/psychology , Retrospective StudiesABSTRACT
If patients with PKU follow a strict diet low in phenylalanine from soon after birth their intellectual and psychomotor development will be within the normal range. Recent studies have shown that it is necessary to continue the burdensome diet throughout one's life. This is in contrast to past practice and puts additional emphasis on psychosocial aspects of PKU. In the present retrospective study we investigated how adolescent patients and their relatives' experience and cope with this chronic disease.