Phenylketonuria (PKU) represents a heterogeneous group of disorders with autosomal recessive inheritance. PKU, or hyperphenylalaninemia, is caused by a deficiency of the phenylalanine hydroxylating system. The phenylalanine hydroxylating system consists of two essential components: phenylalanine hydroxylase and coenzyme tetrahydrobiopterin (Fig. 30.1). PKU is in most patients caused by deficiency of phenylalanine hydroxylase, and in a minority of patients by deficiency of tetrahydrobiopterin.
KeywordsWhite Matter White Matter Change White Matter Abnormality Periventricular White Matter Phenylalanine Hydroxylase
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