Title of article
I-Cell Disease with GNPTAB Gene Mutation
Author/Authors
Ramesh, Bhat.Y Department of Pediatrics - Kasturba Medical College - Manipal University, Manipal, India , Susmitha, Tangirala Department of Paediatrics - Kasturba Medical College Hospital - Manipal University, Manipal, India , Leslie, Lewis Department of Paediatrics - Kasturba Medical College Hospital - Manipal University, Manipal, India , Jayashree, Purkayastha Department of Paediatrics - Kasturba Medical College Hospital - Manipal University, Manipal, India
Pages
5
From page
6261
To page
6265
Abstract
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
Keywords
neonate , Mutation , Mucolipidosis , Skeletal anomalies
Journal title
International Journal of Pediatrics
Serial Year
2017
Record number
2521966
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