University revision · Clinical Biochemistry

Disorders of Amino Acid Metabolism

Question 1 of 10 Course: Biomedical Science(Degree)

Maple syrup urine disease (MSUD) involves branched-chain amino acid metabolism.

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This statement is false. The sickle cell solubility test is a simple, quick screening test. It works by adding a reagent that deoxygenates the blood. If hemoglobin S (HbS) is present, it will polymerize and cause the solution to turn turby (positive test). However, it will be positive whenever any HbS is present, whether the person has sickle cell disease (HbSS), sickle cell trait (HbAS), or another combination like HbSC. Therefore, it cannot differentiate between these conditions. A positive solubility test must be followed by a definitive test like hemoglobin electrophoresis (HPLC or capillary electrophoresis) to identify and quantify the exact types of hemoglobin present and make a precise diagnosis.

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