The elegantly written monograph that follows first summarizes historical views of the concept of psychopathy and gives an authoritative review of the current scientific literature having to do with the nature and causes of psychopathy—dating especially from Cleckley's conceptualization. Second, it critically evaluates current policy and practice concerning the application of the psychopathy con...

Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001- 2010 and having as beneficiaries PKU patients requesting treatment for the di...

Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet. However, in adult PKU new problems occur, such as vitamin deficiencies, osteoporosis and the maternal PKU syndrome. The aim of this review article is to provide guidelines for the clinician to understand and manage PKU in adults.

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]. ...

OBJECTIVE To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. METHODS The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding. Data were analyz...

Despite having average intellectual abilities, academic difficulties are relatively common in children and adolescents with PKU. These academic difficulties may be a function of attention deficit hyperactivity disorder (ADHD), executive functioning deficits, and processing speed deficits, all of which are known to affect academic performance in non-PKU populations. This review focuses on what i...

BACKGROUND Phenylketonuria (PKU) - the most common inherited disorder of amino acid metabolism, identified in Russia by neonatal screening. The results of dietary treatment demonstrate a positive effect. However, the quality of PKU patients life remains unknown. OBJECTIVE The aim of the study was to assess the quality of PKU children life in comparison with their healthy peers, also depending...

Most local health authorities in Great Britain have used the Phenistix test on wet napkins or diapers (napkin-Phenistix test) to screen all young infants for phenylketonuria (Centerwall et al., 1963). This test is a sensitive and reliable method of detecting phenylpyruvic aciduria (Gibbs and Woolf, 1959; Woolf, 1963), which is an early sign of true phenylketonuria (Allen et al., 1964; Berry and...

A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the case from that of malignant hyperphenylalaninaemia.

Background: Phenylketonuria treatment based on phenylalanine-restricted diet has proven to be effective in preventing the development of long-term neurological damage. However, such diets have occasionally been reported to hinder normal development. Furthermore, to improve outcomes in these patients therapy based on administration of the cofactor BH4 has emerged. However, little is known about ...