Cystinosis

external

• Causes

  • CTNS gene mutation

• Parents

  • Aminoacidopathies

• Children

  • Nephropathic hereditary cystinosis
  • Ocular hereditary cystinosis

• Description

  • "CTNS gene codes for cystinosin
  • membrane transporter for cystine. Cystine is accumulated in lysosomes. Highly insoluble
  • precipitaes as crystals in tissues."