Orotic aciduria is an autosomal recessive disease caused by a deficiency of the enzyme UMP synthase (a bifunctional protein composed of orotate pyrophosphoribosyl transferase and OMP decarboxylase activities). What symptom accounts for the disease’s name? Suggest a possible treatment.

Orotic aciduria is an autosomal recessive disease caused by a deficiency of the enzyme UMP synthase (a bifunctional protein composed of orotate pyrophosphoribosyl transferase and OMP decarboxylase activities). What symptom accounts for the disease’s name? Suggest a possible treatment.

Medical Terminology for Health Professions, Spiral bound Version (MindTap Course List)

8th Edition

ISBN:9781305634350

Author:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. Schroeder

Publisher:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. Schroeder

Chapter2: The Human Body In Health And Disease

Section: Chapter Questions

Problem 21LE: The genetic disorder in which an essential digestive enzyme is missing is known as ____. Down...

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Concept explainers

Nitrogen metabolism

Nitrogen metabolism is the synthesis, utilization or uptake, breakdown, and excretion of nitrogenous compounds in the body. The nitrogen metabolism encompasses nitrogen fixation, biosynthesis, and the breakdown of amino acids, purines, and pyrimidine. Since nitrogen-containing compounds are required for various life processes, nitrogen is an important element of life.

Question

Orotic aciduria is an autosomal recessive disease caused by a deficiency of the enzyme UMP
synthase (a bifunctional protein composed of orotate pyrophosphoribosyl transferase and OMP
decarboxylase activities). What symptom accounts for the disease’s name? Suggest a possible
treatment.

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