Srushti Gandhi¹*, Snehal Mallakmir² and Rashid Merchant¹

¹Department of Paediatrics, Nanavati Superspecialty Hospital, Mumbai, Maharashtra, India
²Department of Genetics, Nanavati Superspecialty Hospital, Mumbai, Maharashtra, India

*Corresponding Author: Srushti Gandhi, Department of Paediatrics, Nanavati Superspecialty Hospital, Mumbai, Maharashtra, India.

Received: March 04, 2022; Published: April 28, 2022

Abstract

Multiple Sulfatase Deficiency is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene which encodes the formylglycine-generating enzyme, and resulting in accumulation of sulfatides, sphingolipids, sulphated glycosaminoglycans and steroid sulphates in various tissues. More than fifty different mutations and less than hundred cases have been published so far. We report a new case of MSD presenting in the neonatal period with respiratory distress, feeding difficulty, hypotonia, ichthyosis and dysmorphology. This patient was detected with a known homozygous pathogenic variation in SUMF1 gene c.1043C>T (p.A348V).

Keywords: Multiple Sulfatase Deficiency; MSD; SUMF1 Gene; Formylglycine-Generating Enzyme; Ichthyosis

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Citation

Citation: Srushti Gandhi.,et al. “Multiple Sulfatase Deficiency: A Clinical Report with Neonatal Presentation”. Acta Scientific Paediatrics 5.5 (2022): 26-30.

Copyright

Copyright: © 2022 Srushti Gandhi.,et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.