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Case Report

Prenatal Workup of Mucopolysaccharidosis (MPS) IIIA Lysosomal Storage Disease

Shikha Seth* , Shikha Seth* , Priya Sharma** , Soniya Vishwakarma** , Deepshikha***

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Indian Journal of Maternal-Fetal & Neonatal Medicine 3(2):p 109-111, July - December 2016. | DOI: 10.21088/ijmfnm.2347.999X.3216.9

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Abstract

  Mucopolysaccharidosis (MPS) are the group of autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans (GAGs). Their deficiency results in widespread intra & extra cellular accumulation of GAGs. Diagnosis of MPS is difficult due to rarity of these disorders and variety of clinical manifestation of varied severity. But because of genetic mutations there are high chances of recurrence which can be suspected with the help of family pedigree analysis & diagnosed by the Pre-natal genetic diagnosis (PGD). The purpose of this case is to report the process of follow up for genetic diseases which should always be kept in mind in today’s routine obstetric practice when most of pregnancies are occurring after the age of 30 years. 

Keywords: Mucopolysaccharidosis (MPS); Prenatal Genetic Diagnosis (PGD); Lysosomal Storage Disease; Sanfilippo Disease; Haparan Sulphate. 

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DOI: 10.21088/ijmfnm.2347.999X.3216.9

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