Which of the following is a characteristic feature of Cystinuria, a genetic disorder affecting amino acid transport in the kidneys?

A Excessive excretion of cystine in urine ✓
B Impaired reabsorption of glucose in the kidneys
C Defective transport of branched-chain amino acids
D Increased levels of homocysteine in blood

Explanation

Cystinuria is a genetic disorder characterized by the excessive excretion of cystine in urine due to impaired reabsorption of cystine and other dibasic amino acids in the kidneys.

Mnemonic

Cyst = Stone → cystine stones in urine

Source

Harper's Illustrated Biochemistry
Metabolic and Nutritional Disorders Genetic Disorders Amino Acid Transport Disorders Medium MEDICAL Confidence: high