Personalizing Cystinosis Treatment: The Role of Genetics and Early Diagnosis

Cystinosis is a rare metabolic disorder characterized by the abnormal accumulation of the amino acid cysteine in the cells. This occurs due to a defect in the cystinosin gene which prevents cystine from being transported out of the lysosomes. As cystine crystals accumulate, they can impair the function of organs like the kidneys, eyes, liver, muscles, and brain. There are three main types of cystinosis - nephropathic cystinosis, intermediate cystinosis, and ocular nonnephropathic cystinosis. The most severe form is nephropathic cystinosis which affects newborns and young children

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