No curative treatment is available for<unk>  at this time, although palliative treatment is possible to some extent. The latter mainly focuses on treating the skin lesions through standard methods and stalling collagen degradation (or boosting<unk>  performance, where possible), so as to keep the intracellular dipeptide levels low and give the cells time to resynthesise or absorb what proline they cannot recycle so as to be able to rebuild what collagen does degrade. Patients can be treated orally with ascorbate (a.k.a. vitamin C, a cofactor of prolyl hydroxylase, an enzyme that hydroxylates proline, increasing collagen stability), manganese (a cofactor of<unk> , suppression of collagenase (a collagen degrading enzyme), and local applications of ointments that contain L-glycine and L-proline. The response to the treatment is inconsistent between affected individuals. A therapeutic approach based on enzyme replacement (administering functional<unk>  is under consideration. Due to the weakened immune response in<unk>  cases, it is also of paramount importance to keep any infections under control, often with heavy antibiotics.
Prolidase deficiency
Dopamine transporter deficiency syndrome
Beta-ketothiolase deficiency
Dopamine beta hydroxylase deficiency
Gerstmann syndrome
Aromatic L-amino acid decarboxylase deficiency
Contiguous gene syndrome
Eruptive hypomelanosis