[Updating neonatal neurometabolic screening]

Medicina (B Aires). 2009;69(1 Pt 1):36-40.
[Article in Spanish]

Abstract

The purpose of neurometabolic screening is the earliest possible detection of treatable disorders. The disorders currently offered to general population screening are phenylketonuria, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, biotinidase deficiency, maple syrup urine disease, sickle cell disease, homocystinuria. The methods used for these evaluations are mass spectroscopy and genetic testing.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Humans
  • Infant, Newborn
  • Neonatal Screening*