PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Which autosomal recessive genetic disease can be treated with a strict diet?
A
red-green colorblindness
B
PKU
C
Huntington’s disease
D
Trisomy 21
Explanation: 

Detailed explanation-1: -Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.

Detailed explanation-2: -Diet. The main treatment for PKU is a low-protein diet and controlled intake of many other foods, such as potatoes and cereals. High protein foods should be completely avoided.

Detailed explanation-3: -There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder.

Detailed explanation-4: -Phenylketonuria is a genetic condition where levels of phenylalanine build up in your body. If left untreated, phenylketonuria can affect a person’s cognitive development. Treatment with medications and/or dietary changes help reduce symptoms.

There is 1 question to complete.