Treatment of classical phenylketonuria.

Comparative Effectiveness Review 56: Adjuvant Treatment for Phenylketonuria (PKU)

Phenylketonuria in a six year old Malay boy--a case report.

A six year old Malay boy with phenylketonuria is presented. The history, clinical examination, biochemical findings and treatment are described followed by a discussion on phenylketonuria.

Improved 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 ...

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.

Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before ...

Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.

Indirect measurements have previously suggested that patients with classical phenylketonuria (PKU) do not convert significant amounts of phenylalanine to tyrosine. Low-dose continuous infusion techniques employing [2H5]phenylalanine and [2H2]tyrosine were used to quantitate in vivo phenylalanine hydroxylation in 10 subjects with classical phenylketonuria, 2 with hyperphenylalaninemia (HPA), and...