<unk>  <unk>  is an extremely uncommon autosomal recessive disorder associated with collagen metabolism that affects connective tissues and thus a diverse array of organ systems more broadly, though it is extremely inconsistent in its expression. Collagen is a structural protein found i.a. in bone, skin and connective tissues that is broken down into iminodipeptides at the end of its lifecycle. Of these dipeptides, those containing C-terminal proline or hydroxyproline would normally be broken down further by the enzyme<unk> , recovering and thus recycling the constituent amino acids. Due to a genetic defect,<unk>  activity in individuals with<unk>  is either knocked out or severely reduced. Those affected therefore eliminate excessive amounts of iminodipeptides in their urine, wasting this precious resource, with debilitating effects.
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