Version 1
: Received: 16 August 2023 / Approved: 17 August 2023 / Online: 18 August 2023 (09:45:16 CEST)
How to cite:
Alsharhan, H.; Haider, M.Z.; Qadoura, B.; Ayed, M.; Dhaunsi, G.S.; Alkandari, H. Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening. Preprints2023, 2023081295. https://doi.org/10.20944/preprints202308.1295.v1
Alsharhan, H.; Haider, M.Z.; Qadoura, B.; Ayed, M.; Dhaunsi, G.S.; Alkandari, H. Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening. Preprints 2023, 2023081295. https://doi.org/10.20944/preprints202308.1295.v1
Alsharhan, H.; Haider, M.Z.; Qadoura, B.; Ayed, M.; Dhaunsi, G.S.; Alkandari, H. Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening. Preprints2023, 2023081295. https://doi.org/10.20944/preprints202308.1295.v1
APA Style
Alsharhan, H., Haider, M.Z., Qadoura, B., Ayed, M., Dhaunsi, G.S., & Alkandari, H. (2023). Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening. Preprints. https://doi.org/10.20944/preprints202308.1295.v1
Chicago/Turabian Style
Alsharhan, H., Gursev S Dhaunsi and Hessa Alkandari. 2023 "Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening" Preprints. https://doi.org/10.20944/preprints202308.1295.v1
Abstract
Introduction: Mucopolysaccharidosis type I (MPSI) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in IDUA gene. Early treatment with hematopoietic stem cell transplantation and/or enzyme replacement therapy is associated with improved outcomes in this progressive multisystem disease. The diagnosis is usually delayed due to late presentation and nonspecific symptoms resulting in high morbidity and mortality. The incidence of MPSI in US is estimated to be 0.26:100,000, however, it is unknown in Kuwait. This pilot study was undertaken to screen MPSI in all Kuwaiti neonates born at Farwaniya Hospital over a period of 12-months. This study examined the incidence of MPSI in a major center in Kuwait for inclusion in the national newborn screening program to enable its early detection and adequate treatment.
Methods: All Kuwaiti neonates born at Farwaniya Hospital, Kuwait from December 2021 to December 2022, were screened for MPSI. The screening consisted of determining IDUA enzyme activity in dried blood spots (DBS)-derived samples by Tandem Mass Spectrometry. A follow-up genetic analysis of IDUA gene is planned to screen the cases with diminished IDUA enzyme activity as second-tier testing. Results: A total of 618 newborns, including 331 (54%) males and 287 (46%) females, were screened. Twenty of them had deficient IDUA enzyme activity but showed negative genetic testing for IDUA. However, we have diagnosed one additional female baby with MPSI, who belonged to Farwaniya Hospital, but the parents chose to deliver in a private hospital. She presented at age three months with recurrent upper airway infections, snoring and extensive Mongolian spots. The molecular study revealed previously reported pathogenic nonsense variant in IDUA c.1882C>T; p.(Arg628Ter), associated with severe phenotype. That being included, MPSI is estimated to be about 0.3% among tested females and 0.2% of all screened cases in Kuwait. Conclusion: Our study is the first to evaluate the incidence of MPSI in Kuwait. Given the single center, small number of screened babies and the short study duration thus far, it is premature to calculate the incidence of MPSI. It is anticipated that as the study continues and more infants are examined, we would be able to estimate the incidence of this disease in our population correctly. Further studies including screening newborns in all maternity hospitals in Kuwait are needed to calculate the actual incidence of MPSI. Our data supports including MPSI in national newborn screening program to allow early initiation of treatment and thus improve disease outcome.
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
