INTRODUCTION Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Scre...

OBJECTIVE To evaluate the Neonatal Screening Program in the State of Tocantins from 1995 to 2011. MATERIALS AND METHODS Data collection was conducted by means of interviews with those responsible for the service, by the analysis of medical records of patients diagnosed with phenylketonuria (PKU) and congenital hypothyroidism (CH) that were enrolled in the program, and by interviews with paren...

This paper presents some observations on the dietary treatment of phenylketonuric children seen in Glasgow during the past decade. Both the efficacy of the low phenylalanine diet in preventing brain damage (Bessman, 1966), and the adequacy of diagnostic criteria when applied in early infancy (Schneider and Garrard, 1966; Stephenson and McBean, 1967a) have recently been questioned. We therefore ...

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, ge...

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.

Present study was carried out to study the status of maternal consciousness among Nepalese women living in Kathmandu. Of the total 360 mothers of different ethnic groups included in this study, only 55.5% mothers were found to have a positive feeling regarding their pregnancy (pregnancy is a wonderful event for women) (strongly positive 16.6%; positive 39.2%). Over one-forth of the mothers (27....