Question

The disorder shown on the pedigree is Maple Syrup Urine Disease (MSUD) which is a metabolic disorder that affects the body's ability to progess certain proteins. It was named after a distinctive odor of a baby's urine. 1. What is the inheritance pattern of this gene?


a) autosomal dominant


b) autosomal recessive


c) X-Iinked dominant


d) X-Iinked recessive


2. Provide at least one piece of evidence for your claim

Answer 1

Maple syrup urine disease (MSUD) is an autonomic recessive disease (Option b). It is only expressed when there are two defective alleles.

What is Maple syrup urine disease?

Maple syrup urine disease is an inherited genetic condition that is inherited in an autosomal recessive manner.

This condition is recessive because the presence of a dominant allele is enough to mask the recessive phenotype.

Maple syrup urine is a genetic disease is associated with a faulty oxidative decarboxylation of alpha-keto acids, which are derived from different amino acids (i.e.,  valine leucine, isoleucine).

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