Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.
نویسندگان
چکیده
A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the case from that of malignant hyperphenylalaninaemia.
منابع مشابه
Screening for biopterin defects in newborns with phenylketonuria and other hyperphenylalaninemias.
The newborn screening for phenylketonuria (PKU) has become a common practice in many countries. The success of this type of mass screening is the result of the reliability of the Guthrie test in the identification of high blood phenylalanine levels. Recently, new syndromes other than PKU have been recognized that give high blood phenylalanine levels. These syndromes are referred to as “atypical...
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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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Plasma total biopterin concentration was measured by bioassay in 59 infants with hyperphenylalaninaemia and in 50 children with developmental regression and or movement disorder with normal plasma phenylalanine concentrations. In infants with raised phenylalanine concentrations plasma biopterin concentrations were significantly raised in proportion to the phenylalanine values. Five patients had...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 55 8 شماره
صفحات -
تاریخ انتشار 1980