ABOVE is the twenty-four (24) hour day of CHROMOSOMIC CLOCK and this time is twelve (#12).
Here I present: “Phenylketonuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Phenylketonuria is an autosomal recessive inborn error of metabolism resulting from a deficiency of enzyme phenylalanine hydroxylase (PAH).
INTRODUCTION.
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine in protein. Patients affected by PKU must therefore limit their protein intake in order to prevent serious dietary complications.
Phenylalanine hydroxylase (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. In humans, mutations in its encoding gene, PAH, can lead to the metabolic disorder phenylketonuria (PKU). The PKU gene is on cytogenetic location: 12q23.2 and genomic coordinates 12:102,836,889-102,958,441 the screenshot of the 121,553 bp (base pairs) of DNA length of PAH gene is shown BELOW.
