Single Gene Disorders — MCQs

An infant presents with vomiting after feeding. Benedict's test was positive for a non-glucose reducing substance. What is the most likely diagnosis?

Inheritance of Huntington's disease is

An affected male does not have affected children but an affected female always has affected children. Type of inheritance?

In a patient with maple syrup urine disease, all of the following amino acids should be restricted in diet except?

Which of the following statements about the enzyme aldolase B is false?

In which of the following inheritance patterns is father-to-son transmission not observed?

Which one of the following is an autosomal dominant disorder?

A 6-year-old presents with developmental delay, musty body odor, and fair skin. Lab tests show high phenylalanine levels. What is the most appropriate management?

A neonate was brought to the hospital with chief complaints of poor feeding, vomiting, acidosis, and cataract. Benedict's test on urine was positive, but urinary glucose was negative. What is the defective enzyme in the above-mentioned disorder?

A 25-year-old man presents for a routine physical examination. The patient is tall (6 ft. 5 in) and on examination he was found to have an early diastolic murmur. His family pedigree is as given below. Which of the following is the mode of inheritance by which the disease is likely to be transmitted?