Until puberty, the adrenal cortex secretes two life
essential hormones, aldosterone and cortisol, as
well as a clinically insignificant amount of weak
androgens, called dehydroepiandrosterone (DHEA).
Cystic fibrosis (CF) is one of the more common
serious genetic disorders found among people of
Caucasian descent, with a birth prevalence ranging
from 1 in 2000 to 1 in 8000. It
Newborn screening for phenylketonuria (PKU)
began in the US in the early 1960’s following the
development of the Guthrie bacterial inhibition
assay that allowed for the easy, rapid screening of
elevated blood phenylalanine levels collected on
newborn filter paper samples.
Congenital hypothyroidism is defined as hypothyroidism
present in the early days of life and persisting
for several weeks thereafter.
Only a very small number of inborn errors of metabolism are clinically evident at birth or the early neonatal
period. Exceptions to this general rule are leucinosis and certain aminoacidaemias. Infants affected
with such disorders become moribund soon after birth and unless corrective treatment is undertaken
quickly such disorders lead to death or irreversible neurological damage within a few days.