Tyrosinemia resulting from administration of protein-dense infant diets was detected by newborn screening in two infants. Change of formula resulted in rapid resolution of the hypertyrosinemia. These cases identify nonstandard infant diets as a benign and reversible cause of tyrosinemia and a potential cause of positive newborn phenylketonuria screening.

Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102,200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency, three with citrullinemia type II, and one with p...

Newborn screening is the most modern public health preventive screening program involving the population at large and is mandatory in the USA, Europe, Japan and many South Asian countries. It is unfortunate that in India, newborn screening has not been given the attention it deserves. Neonatal hypothyroid screening using cord blood is an easy, practical & effective method. In most screening pro...

Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Maced...

A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.

Unrecognized congenital hypothyroidism leads to mental retardation. Newborn screening and thyroid therapy started within 2 weeks of age can normalize cognitive development. The primary thyroid-stimulating hormone screening has become standard in many parts of the world. However, newborn thyroid screening is not yet universal in some countries. Initial dosage of 10 to 15 microg/kg levothyroxine ...

OBJECTIVE The purpose of this study was to measure the readability and user-friendliness (clarity, complexity, organization, appearance, and cultural appropriateness of materials) of parent education brochures on newborn screening. METHODS We studied English-language versions of the brochures that state newborn screening programs prepare and distribute. We obtained brochures from 48 states an...

INTRODUCTION Newborn bloodspot screening (NBS) involves testing a small sample of blood taken from the heel of the newborn for a number of serious and life-limiting conditions. In Canada, newborn screening programmes fall under provincial and territorial jurisdiction with no federal coordination. To date, we know very little about the underlying beliefs around different consent practices or how...

Translational research in the field of newborn screening system requires integration of data generated during various phases of life long treatment of patients identified and diagnosed through newborn dried blood spot screening (NDBS). In this paper, we describe the O...

In our Supplemental Newborn Screening Program in western Pennsylvania, we have introduced not only a unique approach to newborn screening, but also some innovative concepts in follow-up confirmation and prognostic diagnosis. The Pennsyl-vania Department of Health routinely screens only for phenylketonuria and congenital hypothyroidism. In an attempt to extend this basic state-mandated screening...