This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: None, Subject name: Biochemistry
[{'content': 'A 6 year old mentally retarded male patient presents with hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasia. What is the diagnosis? \nSelect and explain. \nA. Hurler’s Disease, B. Hunter Disease, C. Natowicz syndrome, D. Maroteaux-Lamy syndrome', 'role': 'user'}, {'content': 'Answer: A \nExplanation: Mucopolysaccharidosis-I H (Hurler’s Diseases):\nBiochemical defect:\nHomozygous or double heterozygous nonsense mutations IDUA gene on Chr 4p encoding α-L-Iduronidase.\nClinical features of MPS-I H (Hurler’s Disease):\n\nProgressive disorder with multiple organ and tissue involvement that results in premature death, usually by 10 years of age.\nAn infant with Hurler’s syndrome appears normal at birth, but inguinal hernias are often present. Diagnosis is usually made between 6 and 24 month of age.\nHepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forhead, joint\xa0stiffness, short stature\xa0and skeletal dysplasia.\nAcute cardiomyopathy has been found in some infants < 1 year of age.\nMost patients have recurrent upper respiratory tract and ear\xa0infections, noisy breathing\xa0and persistent copious nasal discharge.\nValvular heart disease with incompetence, notably of the mitral and aortic valves, regularly develops, as dose coronary artery narrowing.\nObstructive airway disease, notably during sleep, may necessitate trachotomy. Obstructive airway disease, respiratory infection\xa0and cardiac complications are the common causes of death.\n\nReference- Harper’s illustrated biochemistry. 30th edition page no: 179', 'role': 'assistant'}]