ABSTRACT
Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine. We describe two girls, diagnosed at 17 and 14 months of age, respectively, and immediately treated with L-dopa, 5-hydroxytryptophan and carbidopa. In spite of an adequate dietary and pharmacological treatment, the clinical and neurological pictures progressively worsened. Repeated cranial computerized axial tomography scans showed degeneration of the white matter and, in one case, calcification of the basal ganglia. The possible association of this last finding with folate depletion is discussed.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnostic imaging , Brain Diseases/diagnostic imaging , NADH, NADPH Oxidoreductases/deficiency , Phenylketonurias , Atrophy , Basal Ganglia Diseases/diagnostic imaging , Calcinosis/diagnostic imaging , Developmental Disabilities/metabolism , Female , Humans , Infant , Phenylalanine/blood , Tomography, X-Ray ComputedSubject(s)
NADH, NADPH Oxidoreductases/deficiency , Phenylketonurias/etiology , Female , Humans , InfantSubject(s)
Ferritins/blood , Phenylalanine/blood , Phenylketonurias/blood , Adolescent , Child , Child, Preschool , Female , Humans , Infant , MaleSubject(s)
Glycogen Storage Disease Type I/metabolism , Antiporters , Blood Glucose/analysis , Glucose-6-Phosphatase/metabolism , Glycogen Storage Disease Type I/diagnosis , Glycogen Storage Disease Type I/enzymology , Humans , Infant , Liver/enzymology , Male , Monosaccharide Transport Proteins , Phosphorylase Kinase/metabolism , Phosphorylase b/metabolism , Phosphotransferases/metabolismSubject(s)
Body Water/metabolism , Sodium/metabolism , Age Factors , Child , Child, Preschool , Diabetes Insipidus/diagnosis , Diagnosis, Differential , Female , Humans , Infant , Male , Polyuria/diagnosis , Sodium Chloride , Thirst , Water-Electrolyte BalanceABSTRACT
The treatment of classic PKU is based on the dietary restriction of phenylalanine. The present study was planned to evaluate the effectiveness of a new amino acid mixture (ASP-Nestlé) in the dietary treatment of ten PKU patients (age 2 to 9 years, mean 5 years). The children were given this product for a minimum of 3 and a maximum of 12 months (mean 8 months). The aminoacid mixture, diluted in water or various flavored drinks, was favorably accepted by the patients. No clinical signs of hypophenylalaninemia were noticed and the children grew regularly in height and weight. The biochemical parameters, evaluated before during and after the treatment, showed a good nutritional balance. The plasma phenylalanine control was excellent, when compared to the plasma phenylalanine range obtained with other dietary regimens.
