Cystinuria - Inborn error of metabolism - Biochemistry
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- Опубликовано: 5 фев 2025
- Cystinuria is an autosomal recessive inborn error of metabolism. Cystinuria is a genetic kidney disease characterized by the presentce of a defective carrier protein at kidney tubules causing inability to reabsorb di-basic (positively charged) amino acids such as cysteine, arginine, lysine and ornithine. Excess secretion of cystine in the urine causes the formation of cystine kidney stones (hexagonal kidney stones) especially in acidic urine. Symptoms include flank pain, pain on urinartion (dysuria), hematuria, urinary tract infections. Cystinuria is NOT cystinosis. amino acids, dipeptides, tripeptides, oligopeptides, polypeptides, proteins, Biochemistry
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Very useful lecture and important for lab technicians
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