I-cell disease with GNPTAB gene mutation

Bhat Y. Ramesh, Tangirala Susmitha, Lewis Leslie, Purkayastha Jayashree

Research output: Contribution to journalArticle

Abstract

Inclusion-cell (I-cell) disease (mucolipidosis II) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical feature 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 N-acetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB) gene mutation.

Original languageEnglish
Pages (from-to)6261-6265
Number of pages5
JournalInternational Journal of Pediatrics
Volume5
Issue number12
DOIs
Publication statusPublished - 01-12-2017

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All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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