منابع مشابه
Treatment 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 کاملClassical and mild phenylketonuria in a family.
were replaced within the spinal canal. The meninges were repaired and the bony defect covered by two layers of lumbar fascia. There was some superficial wound infection, as there had been after the first operation, but healing was complete after 17 days (Fig. 3). No change in the neurological state of the legs occurred but it was noticed that the child was passing urine very frequently and was ...
متن کاملThe 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 کاملLong-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
Tetrahydrobiopterin (BH4), the natural cofactor of phenylalanine hydroxylase (EC 1.14.16.1), can reduce blood phenylalanine (Phe) in BH4 sensitive patients with hyperphenylalaninemia (McKuisick 261600). We report on the long-term treatment of eight patients with mild and classical phenylketonuria (blood Phe levels maximum blood Phe levels between 771 and 1500 micromol/L) using BH4 at a dosage o...
متن کاملImproved diagnosis of classical vs atypical phenylketonuria by liquid chromatography.
Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage. Measurement of pteridines in urine by liquid chromatography has been widely used for this purpose. Here we report a rapid, simplified liquid-chromatographic ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1968
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.43.227.1