Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India

[1] We are reporting 9-month-old girl born to a second degree consanguineously married couple presented with developmental delay and noisy breathing. Based on severe MPS phenotype in early infancy, enzyme assay, and genetic testing, we diagnosed the case as ML II. ML II causes severe intellectual di...

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Bibliographic Details
Published in:Journal of pediatric neurosciences 2017-01, Vol.12 (1), p.115-116
Main Authors: Gowda, Vykuntaraju K, Raghavan, Varun V, Bhat, Meenakshi, Benakappa, Asha
Format: Article
Language:English
Subjects:
Childrens health
Conflicts of interest
Enzymes
Intellectual disabilities
Letters to the Editor
Mutation
Thyroid gland
Urine
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Summary:[1] We are reporting 9-month-old girl born to a second degree consanguineously married couple presented with developmental delay and noisy breathing. Based on severe MPS phenotype in early infancy, enzyme assay, and genetic testing, we diagnosed the case as ML II. ML II causes severe intellectual disability, coarse facial features, skeletal abnormalities, and an early death during first decade. ML III is a late onset with variations in intellectual disability (normal to decreased), skeletal abnormalities...
ISSN:1817-1745
1998-3948
DOI:10.4103/1817-1745.205656