What is the enzymatic defect which causes Hunter's Disease?: (A) a) L- Iduronidase, (B) b) Iduronate sulphatase, (C) c) Beta Galactosidase, (D) d) All of the above
Answer is B. Explanation- Inheritence- X-linked Recessive Defective enzyme- Iduronate Sulphatase Clinical Features- slower progression of somatic and central nervous system (CNS) deterioration large tongue prominent forehead joint stiffness sho stature skeletal dysplasia obstructive airways Valvular hea disease Mental retardation