منابع مشابه
The dietary treatment of phenylketonuria.
Phenylketonuria is an inborn error of the metabolism of phenylalanine associated almost invariably with grave mental deficiency, and often with epilepsy resembling petit mal. It was suggested that the mental deficiency was due to an intoxication by phenylalanine or one of its metabolites and might be relieved by feeding a diet low in phenylalanine (Woolf and Vulliamy, 1951). An economically pra...
متن کاملTreatment of classical phenylketonuria.
This paper presents some observations on the dietary treatment of phenylketonuric children seen in Glasgow during the past decade. Both the efficacy of the low phenylalanine diet in preventing brain damage (Bessman, 1966), and the adequacy of diagnostic criteria when applied in early infancy (Schneider and Garrard, 1966; Stephenson and McBean, 1967a) have recently been questioned. We therefore ...
متن کاملFuture treatment strategies in phenylketonuria.
Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prevent clinical features of the disorder; dietary management was established almost 60 years ago. The institution of a low-phenylalanine (Phe) diet in the first few weeks of life was made possible by Guthrie neonatal screening, which further increased effectiveness of therapy. Indeed, neonatal diagn...
متن کاملPotential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
OBJECTIVE To evaluate the clinical relevance of tetrahydrobiopterin (BH4) supplementation for pregnant women with phenylketonuria (PKU)/hyperphenylalaninemia (HPA) and the possibility of treating these patients with BH4 instead of a phenylalanine (Phe)-restricted diet. METHODS Genotyping was performed on 41 patients with PKU/HPA identified by newborn screening. Evaluating the genotype accordi...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1958
ISSN: 0035-9157
DOI: 10.1177/003591575805101206