Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria

Abstract

A multiple screening program to establish the frequency of congenital hypothyroidism (CH), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria and hypertyrosinemia in endemic and sporadic goitrous regions of Italy is being carried out. Valine, methionine, leucine, isoleucine, tyrosine and phenylalanine, eluted from a single spot and separated by column chromatography, are measured, using whole blood adsorbed on filter paper. CH is detected by RIA assay of TSH eluted from dried blood spot. A cut-off of 100 microU/ml for TSH is used providing a recall rate of 0.38%. Out of 116,000 newborn infants screened for aminoacidopathies (since 1974), 16 PKU patients, 3 affected by MSUD, 2 homocystinuric babies have been detected. Out of 25,400 newborn infants screened for CH, 5 patients were affected by permanent CH and 29 by transient hyperthyrotropinemia. Thus PKU shows a frequency of 1:7,200 newborn infants, and permanent congenital hypothyroidism 1:5,080. The coordination of screening programs for congenital metabolic diseases in a single central unit allows:--the unification of the input of samples and output of data in a single data bank;--a minimization of the physical and psychological stress to the patients and their families;--and a more satisfactory cost/benefit ratio.