STUDIES ON PHENYLKETONURIA

Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria.

Recent studies on galactosaemia, phenylketonuria and homocystinuria.

Galactosaemia, phenylketonuria and homocystinuria are inborn errors of metabolism as the term was defined by Garrod (1908). I n all three lack of an enzyme causes a metabolic block and accumulation of the substrate of the missing enzyme, and all three are inherited as Mendelian recessive characters. Unlike Garrod's original examples, galactosaemia, phenylketonuria and homocystinuria are often a...

Xxxviii. Metabolic Studies in Phenylketonuria

F6LLING [1934] discovered that, in certain cases of mental deficiency, phenylpyruvic acid was excreted in the urine. His attention was drawn to the phenomenon by the characteristic colour produced by the addition of ferric chloride solution to the urines of these patients, and he identified the responsible substance as phenylpyruvic acid. Other cases have since been recognized [Penrose, 1935]. ...

Studies on phenylketonuria. II. The excretion of o-hydroxyphenylacetic acid in phenylketonuria.

Phenylketonuria (phenylpyruvic oligophrenia) is an inherited condition in the human in which the ability of the liver to oxidize phenylalanine to tyrosine is impaired (2). Because this pathway represents the major, although not the only, manner in which phenylalanine is metabolized in mammals, considerable amounts of phenylalanine accumulate in the blood and tissues of affected individuals, and...

Phenylketonuria.

Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neo...