Presentation October 16th 2018

First years of experience on LSD screening in Italy, Padova

Abstract 

The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) for lysosomal storage diseases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases. 

Activities of acid β-glucocerebrosidase (ABG; Gaucher), acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), and acid α-Liduronidase (IDUA; MPS-I) in dried blood spots (DBS) from all newborns during a 31-month period were determined by multiplexed tandem mass spectrometry (MS/MS) using the NeoLSD® assay system. 

From September 2015 to April 2018, 85,445 newborns were screened for the four LSDs. We recalled 96 neonates (0.11%) for collection of a second DBS. Low activity was confirmed in 43, who had confirmatory testing. 16/43 had pathogenic mutations: four Pompe, four Gaucher, six Fabry, and two MPS-I. The incidences of Pompe and Gaucher diseases were similar (1/21,361), with Fabry disease the most frequent (1/ 14,241) and MPS-I the rarest (1/ 42,723). The combined incidence of the four disorders was 1:6,572 births. Simultaneously determining multiple enzyme activities by MS/MS, with a focus on specific biochemical markers, successfully detected newborns with LSDs. The high incidence of these disorders supports this screening program.

The presentations are available for educational exchange purposes only. Products mentioned in the presentation may not be available in your country. Please consult your local PerkinElmer representative for the products available in your country
This website stores cookies on your computer. These cookies are used to improve our website and provide more personalised services to you.
Close

Cookies

To make this site work properly, we sometimes place small data files called cookies on your device. Most big websites do this too.

1. What are cookies?

A cookie is a small text file that a website saves on your computer or mobile device when you visit the site. It enables the website to remember your actions and preferences (such as login, language, font size and other display preferences) over a period of time, so you don’t have to keep re-entering them whenever you come back to the site or browse from one page to another.

2. How do we use cookies?

A number of our pages use cookies to remember your actions and preferences (such as login, language, font size and other display preferences.)

Also, some videos embedded in our pages use a cookie to anonymously gather statistics on how you got there and what videos you visited.

Enabling these cookies is not strictly necessary for the website to work but it will provide you with a better browsing experience. You can delete or block these cookies, but if you do that some features of this site may not work as intended.

The cookie-related information is not used to identify you personally and the pattern data is fully under our control. These cookies are not used for any purpose other than those described here.

3. How to control cookies

You can control and/or delete cookies as you wish – for details, see aboutcookies.org. You can delete all cookies that are already on your computer and you can set most browsers to prevent them from being placed. If you do this, however, you may have to manually adjust some preferences every time you visit a site and some services and functionalities may not work.

Close