Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
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چکیده
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...
متن کاملPhenylketonuria and its variants.
The hepatic phenylalanine hydroxylase system is complex, consisting of at least two enzymes and two non-protein cofactors. In classical phenylketonuria (PKU) the affect component has been shown to be the enzyme, phenylalanine hydroxylase. Recently, several variant forms of PKU have been identified which are due to deficiencies of two of the other components of the hydroxylase system, dihydropte...
متن کاملChallenges in the management of Phenylketonuria in Malta
Malta Medical Journal Volume 28 Issue 02 2016 Abstract Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is associated with greater and long term neurodisability. The absence of newborn screening fo...
متن کاملReport of VNTR with 13 Repeats Linked to Phenylalanine Hydroxylase Locus in Unaffected Members of Two PKU Families
Phenylketonuria (PKU) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (PAH) gene. This gene is linked to a variable number of tandem repeats (VNTR) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously ...
متن کاملPhenylketonuria and Hirschsprung Disease— A Report of an Unusual Neonatal Presentation
We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium until 32 hours after birth, resulting in the clinical suspicion of an intoxication-type metabolic di...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 54 2 شماره
صفحات -
تاریخ انتشار 1979