Eunice Kennedy Shriver National Institute of Child Health and ...
May 15, 2012 · Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart …
Phenylketonuria: An Inborn Error of Phenylalanine Metabolism
Conversion of Phe to Tyr is via a pathway involving the para-hydroxylation of the benzene by PAH, the cofactor BH 4 and molecular oxygen. A number of rare, related disorders due to defects in the BH 4 …
Phenylketonuria: a review of current and future treatments
Oct 7, 2015 · In phenylketonuria (PKU), the deficiency of PAH enzyme leads to the production of phenylketones by an alternative pathway (red box). A third pathway (green box) can be found in …
Phenylketonuria - Genes and Disease - NCBI Bookshelf
Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, …
Genetic etiology and clinical challenges of phenylketonuria
Background Phenylketonuria (PKU, MIM 261,600) is a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1; OMIM 612,349) that occurs in approximately 1 in 24,000 people, …
European guidelines on diagnosis and treatment of ...
Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into …
Management of patients with phenylketonuria (PKU) under ...
Abstract Objective Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian …
Phenylketonuria - StatPearls - NCBI Bookshelf
Feb 12, 2025 · PKU belongs to a class of amino acid aminoacidopathies termed “toxic accumulation-IEMs” where the circulating toxin is an amino acid or its metabolites. Mutations in an enzyme, such …