Phenylketonuria (PKU; MIM 261600) is an inborn error of amino acid metabolism caused by reduced phenylalanine hydroxylase (PAH; EC 1.14.16.1) activity (Blau et al 2010). After the discover by Dr. Asbjørn Følling (Folling 1994), the first treatment approach was proposed by Dr. Horst Bickel in 1950s (Bickel et al 1953). Despite new therapies have recently emerged [large neutral amino acids (LNAA)...

Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...

BACKGROUND In phenylketonuria, dietary treatment prevents most of the severe brain disease. However, patients have to follow a diet restricted in several natural components, what may cause decreased bone density and obesity. Exercise is known to improve both mental functioning and bone density also avoiding obesity, and could optimize aspects of central and peripheral outcome, regardless change...

A report is made of cases of phenylketonuria detected at Bangalore along with experiences in the dietary therapy and management of the cases. The need for early detection and early dietary intervention is indicated.

When a pregnant woman, Vaishali (not her real name), died in a village in Gujarat, we decided to examine the circumstances that led to her death. We asked healthcare professionals and the sarpanch in the village if they could identify the events that caused her death. Not only were they clueless about the cause of Vaishali’s death, they also showed no interest in discussing how such deaths coul...