Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder characterized by intravascular haemolysis with peculiarly low bilirubin levels, nephritis, and features of systemic inflammation. It has been reported that mutations in HMOX1 cause this disease. HMOX1 encodes heme oxygenase-1, a rate-limiting enzyme catalysing the oxidation of heme to biliverdin, which is further converted to bilirubin. HMOX1 is rapidly induced in the liver, spleen, and endothelium following oxidative stress.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C58 Inborn errors of porphyrin or heme metabolism
H02929 Heme oxygenase-1 deficiency
