Biochemical 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...

Biochemical Studies on Shock

During and following the production of shock by hemorrhage in the normal, suprareno-demedullated, and suprarenalectomized rat, the following significant changes in amino acid and carbohydrate metabolism have been observed. 1. In the intact, suprareno-demedullated, and suprarenalectomized rat there is a progressive rise in the whole blood and plasma amino acid nitrogen levels during and after 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]. ...

Biochemical Studies on Inositol

In a previous publication (1, Paper V of this series) the purification and properties of the inositol-cleaving enzyme were described. It was shown that a highly purified enzyme was obtained from rat kidneys which cleaved inositol to D-ghCUI’OniC acid. The purified enzyme was shown to possess SH groups and 1 gram atom of iron per mole of enzyme. Both the SH groups and the iron are necessary for ...