Credit seminar on Genetics of Morquio Syndrome

Morquio syndrome type A is a rare inherited (autosomal recessive) lysosomal storage disease. It is caused due to the buildup of keratan sulfate. The body is not able to process keratan sulfate due to the absence of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). GALNS hydrolyses the sulfate ester groups of galactose-6-sulfate at the nonreducing end of keratan sulphate (KS) and of N-acetylgalactosamine-6-sulfate (Gal- NAc6S) at the nonreducing end of condroitin-6-sulfateThis accumulation causes a severe skeletal dysplasia with short stature, and affects the eye, heart and other organs, with many signs and symptoms. Morquio A syndrome is estimated to occur in 1 in 200,000 to 300,000 live births. GALNS gene is located on chromosome 16. Affected child may die at an early age of 7-10 or can live up to the age of 25yrs. The disease can be diagnosed by X-ray analysis, enzyme test, genotyping and urine test. At present there is no treatment for the disease. Clinical trials with enzyme replacement therapy for this disease are in progress.

Name of the Student : Bonney Lee James
Reg No: 1741210017
Batch: M.Tech II Year
Name of the Guide: DR. Kiran Kumar