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?

Differential expression of the same gene depending on parent of origin is referred to as