Spectrum of Lysosomal Storage Disorders at a Medical Genetics Center in Northern India.
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Date
2012-10
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Abstract
Background: There is limited literature available on the
phenotypic and mutation spectrum of Indian patients with
Lysosomal storage disorders (LSD).
Objective: To elucidate the clinical, biochemical and mutation
spectrum and to study the management options in Indian patients
with lysosomal storage disorders.
Design: Descriptive study.
Subjects and Methods: All patients with lysosomal storage
disorders diagnosed in the Medical Genetics department of a
tertiary care institute in North India over a three year period from
January 2008 to December 2010.
Results: Out of the total of 93 patients clinically suspected to have
LSDs, 68 (mean age at presentation 4.5 years) were confirmed to
have LSDs based on the laboratory/neuroimaging findings and
documentation of deficient enzymatic activity in the peripheral
blood (leucocytes or plasma) and/or skin fibroblasts. The
commonest clinical features at presentation were growth
retardation (failure to thrive 47.2% and short stature 17.6%),
hepatosplenomegaly (41.2%) and neuroregression (33.8%). A
history of consanguinity was present in 32.4% of the families.
Prenatal diagnosis was done in a total of 6 affected families; two
pregnancies were found to be affected (one each with Gaucher
disease and Tay Sachs disease) and in both cases the parents
opted for termination of pregnancy. Of the remaining four
pregnancies which were found to be unaffected and therefore
continued, three were confirmed to be normal on post-natal follow
up. Enzyme replacement therapy (ERT) is being given for a total
of 8 LSD patients and all of them are showing a gradual
amelioration of their symptoms and an improvement in the quality
of life.
Conclusions: Lysosomal storage disorders constitute an
important group of genetic metabolic disorders for many of which
therapeutic options are now available.
Description
Keywords
Lysosomal storage disorders, India, Clinical, features, Management, Mutation analysis
Citation
Verma Prashant K, Ranganath Prajnya, Dalal Ashwin B, Phadke Shubha R. Spectrum of Lysosomal Storage Disorders at a Medical Genetics Center in Northern India. Indian Pediatrics. 2012 October; 49(10): 799-804.