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Newborn screening in mucopolysaccharidoses

Maria Alice Donati1, Elisabetta Pasquini1, Marco Spada2

  • 1Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children Hospital, Florence, Italy.

Italian Journal of Pediatrics
|November 17, 2018
PubMed

Insights

Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise due to improved therapies. However, high rates of pseudodeficiency alleles, particularly in certain populations, complicate screening interpretation.

Area of Science:

  • Biochemistry and Genetics
  • Newborn Screening
  • Metabolic Disorders

Background:

  • Therapeutic options and newborn screening (NBS) methods for mucopolysaccharidoses (MPS) are advancing.
  • Early intervention in MPS significantly improves patient outcomes.
  • Mucopolysaccharidosis type I (MPS I) is being considered for inclusion in NBS panels globally.

Purpose of the Study:

  • To evaluate the feasibility and challenges of implementing MPS I newborn screening.
  • To assess the impact of pseudodeficiency alleles on MPS I screening results.
  • To inform future NBS strategies for MPS disorders.

Main Methods:

  • Analysis of data from two pilot MPS I newborn screening studies in Italy (Tuscany-Umbria and North East Italy).
  • Inclusion of alpha-L-iduronidase (IDUA) gene molecular analysis for pseudodeficiency alleles.
  • Monitoring of infants with abnormal screening results and variants of unknown significance (VUS).

Main Results:

  • In the Tuscany-Umbria pilot, seven out of eight positive infants had pseudodeficiency alleles (p.Ala79Thr, p.His82Gln), with a high prevalence in individuals of African origin.
  • The North East Italy experience identified one affected newborn out of 66,491 screened, with a high incidence of pseudodeficiency (1:6044), also noted in patients of African origin.
  • One infant showed transient elevation of urine glycosaminoglycans (GAGs) and is under follow-up.

Conclusions:

  • The high prevalence of pseudodeficiency alleles, especially in specific ethnic groups, presents a significant challenge for accurate MPS I newborn screening.
  • Long-term follow-up is crucial for infants with abnormal NBS results or VUS to determine true risks and benefits.
  • The development of combined MPS screening assays and the availability of early treatments for other MPS types may facilitate future NBS pilot studies.

Keywords:
Lysosomal storage disordersMucopolysaccharidosesMucopolysaccharidosis type INewborn screening

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