Different Viewpoints: International Perspectives on Newborn Screening.

Newborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation (and thus public and media pressure) or is embedded in a general health care system and managed at an executive level. It is generally accepted that disorders to be screened for should comply with the ten Wilson and Jungner criteria, but the way that compliance is assessed ranges from broadly-based opinion surveys to detailed analysis of quantitative data.

Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya.

Background: Inborn errors of metabolism (IEM) are a significant cause of morbidity and mortality in North Africa and the Middle East. With the evident success of neighbouring countries in initiating neonatal screening for IEM, the Libyan Authorities are now considering introducing neonatal screening for phenylketonuria (PKU) in Libya in the first instance, with the prospect of expanding the programme to cover other IEM in the future.

Objective: To estimate the cost effectiveness of neonatal screening for PKU compared with no neonatal screening in Libya.

New technologies extend the scope of newborn blood-spot screening, but old problems remain unresolved.

Unlabelled: The potential of newborn blood-spot screening is expanding rapidly with the development of new analytical techniques and treatment methods. At the same time, some existing programmes, particularly that for congenital hypothyroidism, are coming under scrutiny because of suspicion that they are being shaped by analytical performance rather than evidence of clinical need. Screening policy varies greatly from country to country.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Background & Aims: Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects. We attempted to characterize the phenotype and elucidate the molecular basis of THES.

Methods: Twelve patients with classic THES from 11 families had detailed phenotyping.

The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. This article updates a human genome epidemiology review of MCADD published in 1999. The focus of this update is on epidemiologic parameters rather than mutations associated with MCADD.

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encephalopathy, which is highly responsive to L-carnitine therapy. Molecular analysis of the SLC22A5 (OCTN2) gene, encoding the high-affinity carnitine transporter, was done in 11 affected individuals by direct nucleotide sequencing of polymerase chain reaction products from all 10 exons. Carnitine uptake (at Km of 5 microM) in cultured skin fibroblasts ranged from 1% to 20% of normal controls.