Catalog

Hyperlysinaemia type 1

No MMS code

Link to WHO Definition

Hyperlysinaemia type 1 – http://id.who.int/icd/entity/931793127

This usually presents in childhood with eruptive xanthomata and abdominal colic. Complications include retinal vein occlusion, acute pancreatitis, steatosis and organomegaly, and lipaemia retinalis.