Phenylalanine hydroxylase (PAH) deficiency, traditionally called phenylketonuria (PKU) due to characteristic phenylketones accumulating in the urine of affected individuals, has a significant ...

Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes. Treatment w ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...

The American College of Medical Genetics and Genomics has just published its highly anticipated Evidence-Based Clinical Guideline (EBG): “Phenylalanine Hydroxylase (PAH) Deficiency Diagnosis and ...

Molecular testing includes looking at the phenylalanine hydroxylase deficiency via the activity and functioning of the PAH gene on the 12 th chromosome. There are between 1 and 15 faults or mutations.

PHENYLKETONURIA is a hereditary metabolic disease caused by a deficiency of the enzyme, phenylalanine hydroxylase. Data have been presented showing that the mental retardation in this condition can ...

Dec. 26, 2002 -- Tetrahydrobiopterin may be a useful alternative to dietary restriction for mild hyperphenylalanemia or mild phenylketonuria (PKU), according to a preliminary report published in ...

PKU, a genetic disorder affecting approximately 50,000 diagnosed patients in the developed world, is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH).

A new drug developed by BioMarin Pharmaceuticals showed promise in lowering phenylalanine in the blood of patients with phenylalanine hydroxylase deficiency. However, it failed to show benefit in ...

Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1: ...

By Dr. Priyom Bose, Ph.D. Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and ...