Mucolipidosis Type II {I-Cell} in two Children with Skeletal Abnormality, Dysmorphism and Hepatosplenomegaly
Jayesh J Sheth, Nrupesh Oza, Mehul Mistri, Premal Naik, Suresh Kumar, Frenny Sheth
FRIGE {Foundation for Research in Genetics and Endocrinology}, Institute of Human Genetics, Ahmedabad, India
Abstract

Mucolipidosis type II (ML-II) or I-cell disease is a rare autosomal recessive lysosomal storage disorder. This occurs due to deficiency of lysosomal transporter enzyme (phosphotransferase) with the birth incidence of 1:3,50,000. We report two cases of I-cell disease presented with dysostosis multiplex, dysmorphism and hepatosplenomegaly. Serum screening for I-cell was positive in both cases with marked elevation of lysosomal enzymes Arylsulphatase-B, β-Hexosaminidase, α-Fucosidase and α-Mannosidase. Due to its rarity and phenotypic heterogeneity present cases are reported.
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