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: ...

The scientific answer, all too advanced for a young child to comprehend, is that individuals with recessively inherited deficiency of the liver enzyme phenylalanine hydroxylase (PAH) cannot ...

Newborns who are diagnosed with phenylalanine hydroxylase deficiency may show no initial symptoms or signs. Over time they may develop symptoms of phenylalanine build-up in the body. In the body ...

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 ...

Because of this, a lack of phenylalanine usually results from insufficient protein consumption rather than a specific deficiency. If you're getting enough protein in your diet, you're also getting ...

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 ...

Foods that contain phenylalanine include soy, chicken, milk, sesame seeds, and lima beans. Tyrosine may improve mood, cognition, or concentration. A deficiency in this amino acid may cause low ...

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 PTC drug, sepiapterin, is a potential treatment for phenylketonuria (PKU), an inherited deficiency of an enzyme needed to break down an amino acid called phenylalanine. The resulting ...