This study evaluated the newborn screening program for phenylketonuria (PKU) in Thailand from 1996 to 2006. During the study period, 5,243,841 newborns were screened, of which 16 were confirmed to have PKU. The phenylalanine levels ranged from 20.30-30.68 mg/dl (mean 25.82 mg/dl). All the patients who were diagnosed through the newborn screening program had normal growth and development after t...

The timely detection of newborns with congenital phenylketonuria, in which the metabolism amino acid phenylalanine is disturbed due to lack enzyme hydroxylase, remains an urgent issue. Increase level and its toxic products cell leads severe brain damage, manifests itself form mental retardation. Prompt diagnosis phenylketonuria can prevent dementia serious disorders. aim work a comprehensive st...

Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran Background: Phenylketonuria is an autosomal recessive disease. Early diagnosis is a important public health intervention to prevent neurological impairment .This study was designed to describe characteristics of phenylketonouria patients in Khorasan ,Northeast of Iran. Methods: We included all ...

Background: Phenylketonuria (PKU) is an autosomal recessive disease of Phenylalanine metabolism that brings deficiency of the enzyme Phenylalanine Hydroxylase (PAH). Early diagnosis is very important to prevent complications. This study was designed to describe characteristics of patients with phenylketonuria in Mazandaran Province in northern Iran. Methods: We studied 24 cases suffering from P...

We describe a family in which four subjects in two generations have a disorder of phenylalanine metabolism. Two first cousins had different biochemical presentations in the neonatal period. The older child was thought to have a more severe form of phenylketonuria (PKU), and the younger child a milder form. While carrying out family studies we discovered that their mutual grandfather and his old...

Phenylketonuria is treated either with tetrahydrobiopterin (BH4) or a phenylalanine-restricted diet. Patients in the diet group may tend to consume carbohydrate-rich foods which have risk for obesity. In this study, prevalence of obesity+overweight among phenylketonuria patients BH4 were compared.Patients divided into two groups on dietary treatment and treatment. Body mass index (BMI), BMI-per...

The biochemical features of phenylketonuria have been reproduced in developing rat pups by administering to them a combination of p-chloro-DL-phenylalanine plus L-phenylalanine for the first 21 days after birth. During the treatment period, the experimental animals show delayed eye opening and decreased brain weight compared with controls given saline. Neuropathological examination of developin...

The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling's (1934) disease of phenylketonuria is not a single entity. In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the...

METHOD for collection of urine from infants onto squares of filter paper was described as part of a program for early detection of phenylketonuria (1). These urine papers have proved extremely versatile as an aid to testing urine for a number of substances that are excreted as a result of certain metabolic defects, all easily detectable by simple means. Phenylpyruvic acid, phenylalanine, and oh...