Conditions / Genetic
cystinosis
info · Genetic
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
Signs and symptoms
- Elevated leukocyte cystine
- Corneal crystals
- Failure to thrive in infancy
- Short stature
- Aminoaciduria
- Hypopigmentation of the skin
- Glycosuria
- Hyperphosphaturia
- Low-molecular-weight proteinuria
- Global developmental delay
Medications that may treat it
Also known as: cystine storage disease