MUCOPOLYSACCHARIDOSIS (MPS) TYPE VI (MAROTEAUX LAMY) QUANTITATIVE, BLOOD

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MUCOPOLYSACCHARIDOSIS (MPS) TYPE VI (MAROTEAUX LAMY) QUANTITATIVE, BLOOD

257 Ratings

Rs 2,198 Rs 1,640

25 % OFF

MAROTEAUX-LAMY IS TYPE VI MPS DUE TO DEFICIENT ENZYME ACTIVITY OF ARYLSULPHATASE B. IT SHOWS AN AUTOSOMAL RECESSIVE INHERITANCE & ONSET IS LATE INFANTILE. DERMATAN SULPHATE IS EXCRETED IN URINE. PATIENTS PRESENT WITH HEPATOSPLENOMEGALY, SKELETAL DYSPLASIA, CORNEAL CLOUDING, COARSE FACIES & VALVULAR HEART DISEASE. AN IMPORTANT HEMATOLOGIC FINDING IS GRANULATED NEUTROPHILS & LYMPHOCYTES. NO COGNITIVE DEGENERATION IS PRESENT.

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