A genetic defect in _____ results in the accumulation of toxic levels of nucleotide metabolites and loss of T-cell function.

Question

Quizplus · Accepted Answer

Adenosine deaminase (ADA) is an enzyme responsible for the breakdown of purine nucleotides. A genetic defect in ADA results in the accumulation of toxic levels of nucleotide metabolites such as deoxyadenosine triphosphate (dATP) and adenosine triphosphate (ATP). These metabolites can be toxic to lymphocytes, leading to loss of T-cell function and severe combined immunodeficiency (SCID). Patients with ADA deficiency are highly susceptible to infections and require treatment with enzyme replacement therapy or bone marrow transplantation.

A Genetic Defect in _____ Results in the Accumulation of Toxic