Kystins
Kystins are a group of rare, inherited metabolic disorders characterized by the accumulation of cystine, a sulfur-containing amino acid, within lysosomes due to defects in the cystine transport protein. These conditions primarily affect the kidneys, eyes, brain, and other organs, leading to a range of clinical manifestations depending on the specific type and severity of the disorder.
The most well-known kystinosis is **nephropathic cystinosis**, also referred to as **type 1 cystinosis**, which is
Other forms of cystinosis include **intermediate cystinosis** and **ocular cystinosis**, which are generally milder. Intermediate cystinosis
Diagnosis of kystinosis is confirmed through genetic testing or measurement of cystine levels in white blood
Kystinosis is inherited in an autosomal recessive manner, meaning an individual must inherit two copies of