Neonatal Screening for Mucopolysaccharidoses
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (31 August 2020) | Viewed by 28659
Special Issue Editors
Interests: clinical and biochemical characterisation of inborn errors of intermediary metabolism; clinical application of tandem mass spectrometry; neurotransmitters defects; metabolic diseases in adulthood; development of new therapies; NBS new programs for inborn errors of metabolism
2. Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
Interests: lysosomal storage diseases; mucopolysaccharidoses; newborn screening
2. Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil
Interests: inborn errors of metabolism, particularly lysosomal disorders
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Special Issue Information
Dear Colleagues,
The suspicion of mucopolysaccharidosis (MPS) might arise from clinical observation of typical signs and symptoms, followed by laboratory confirmation with specific enzyme assays, evaluation of urinary GAGs and molecular genetics analyses. Nowadays, diagnosis of a metabolic disorder may also come from neonatal screening approach. Among MPS disorders, MPS I is the most suitable to be included in neonatal screening programs because the advantage of an early diagnosis allowing early treatment is quite evident. Regular programs and pilot studies on MPS I screening are ongoing now in many countries worldwide. Other treatable MPS (MPS II, IVA, VI, and VII) are also being considered, with neonatal screening already in place or planned for some of them. Public health decisions to include MPS in the neonatal screening should also take into consideration the ethical aspects, as it involves apparently healthy babies and must know how to face, for example, findings such as pseudodeficiency or genetic variants of uncertain significance. As a consequence, physicians should learn how to modulate communication of the screening results to parents, and laboratories should perform and give prompt results of second-tier tests; psychological support services for the families are also needed. As with other groups of diseases, newborn screening for MPS raises the risk of overtreatment and, since all MPS are very rare diseases, evidence of its efficacy is difficult to demonstrate using standard analyses.
This Special Issue on Newborn Screening for MPS diseases, to be published in the International Journal of Neonatal Screening, will focus on newborn screening experiences and short- and long-term follow-up of newborns identified with different types of MPS. We think this Special Issue comes at a very appropriate moment, and we thank all contributing authors in advance.
Prof. Dr. Alberto Burlina
Prof. Dr. Barbara K. Burton
Prof. Dr. Roberto Giugliani
Guest Editors
Manuscript Submission Information
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Keywords
- neonatal screening
- Mucopolysaccharidosis type I,II,IVA,VI,VII
- second-tier test
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