Storage Diseases

See sphingolipid metabolism

Lysosomal Storage Diseases

Cystinosis

A defect in lysosomal cystine transport causes cystinosis, a lysosomal storage disease in which cystine accumulates in the lysosomes. It may either follow a benign course, or results in renal tubular damage and development of the Fanconi syndrome.

Do not confuse with cystinuria, which is caused by a defect in renal tubular transport.