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Multiple sulfatase deficiency: A case series of four children
- Source :
- Annals of Indian Academy of Neurology, Vol 16, Iss 4, Pp 720-722 (2013), Annals of Indian Academy of Neurology
- Publication Year :
- 2013
- Publisher :
- Wolters Kluwer Medknow Publications, 2013.
-
Abstract
- Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p.G247R amino acid substitution in the SUMF1 protein.
- Subjects :
- chemistry.chemical_classification
business.industry
Ichthyosis
Hepatosplenomegaly
Case Report
medicine.disease
Hypotonia
lcsh:RC346-429
Enzyme
Biochemistry
chemistry
Multiple sulfatase deficiency
sulfatase-modifying factor 1 gene
Mutation testing
Medicine
Missense mutation
multiple sulfatase deficiency
Neurology (clinical)
medicine.symptom
business
Child
lcsh:Neurology. Diseases of the nervous system
Cysteine
Subjects
Details
- Language :
- English
- ISSN :
- 19983549 and 09722327
- Volume :
- 16
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Annals of Indian Academy of Neurology
- Accession number :
- edsair.doi.dedup.....66446399b159f67d90a95fa76482af95