Publications

Authors:

Zaffanello, Marco; Zamboni, G; Tato', Luciano

Title:

Neonatal screening program for inborn errors of metabolism: a retrospective study from 1978 to 1997 in Northeastern Italy

Year:

2002

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

THE ITALIAN JOURNAL OF PEDIATRICS.

ISSN of journal:

1720-8424

N° Volume:

28

:

Pacini Editore

Page numbers:

479-483

Keyword:

Neonatal screening • Incidence • Inborn error of metabolism

Short description of contents:

Aims. To assess the prevalence in northeastern Italy of various metabolic diseases (phenylketonuria, maple syrup urine disease, galactosemia, biotinidase deficiency and glucose-6-phosphate dehydrogenase deficiency) by routine neonatal screening and to compare our results with those reported for other European regions. Methods.Between 1978 and 1997, a total of 1,142,338 newborns (≈97.1% of total births) in northeastern Italy underwent blood ampling for phenylketonuria, maple syrup urine disease and galactosemia, by absorption of the specimens onto Guthrie cards; between 1989 and 1997, a total of 509,556 newborns were screened for biotinidase deficiency. Fur-thermore, between 1982 and 1997 a total of 605,604 newborns were screened for glucose- 6-phosphate dehydrogenase deficiency solely in the Veneto region. Results. The incidence of each disease was 1:45,690 for phenylketonuria; 1:190,390 for maple syrup urine disease; 1:40,780 for galactosemia; 1:63,690 for biotinidase deficiency and 0.24% for glucose-6-phosphate dehydrogenase deficiency. Conclusions. The incidence for phenylketonuria and biotinidase deficiency was lower than that found in previous studies conducted in northeastern Italy. Maple syrup urine dis-ease is a rare condition in this area, as it is in the rest of Europe, although cases with a lat-er onset may not be detected by early screening. The incidence of galactosemia was sim-ilar to that reported for the rest of Europe, while the incidence of glucose-6-phosphate de- hydrogenase deficiency was lower and had a variable distribution over the territory.

Web page:

http://www.ijp.it/articoli/2002/vol-6-02/indice6_02.htm

Product ID:

44047

Handle IRIS:

11562/236277

Deposited On:

August 22, 2007

Last Modified:

November 12, 2022

Bibliographic citation:

Zaffanello, Marco; Zamboni, G; Tato', Luciano, Neonatal screening program for inborn errors of metabolism: a retrospective study from 1978 to 1997 in Northeastern Italy «THE ITALIAN JOURNAL OF PEDIATRICS.» , vol. 28 , 2002 , pp. 479-483

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