Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances, the concentrations of biliverdin are much lower than those of bilirubin. However, in rare cases, impairment of the biliverdin/bilirubin pathway has been reported to result in green jaundice and a green discoloration of body fluids. It has been reported that hyperbiliverdinaemia is caused by a genetic defect in the BLVRA gene in conjunction with decompensated liver cirrhosis.
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
H01936 Hyperbiliverdinemia
Nytofte NS, Serrano MA, Monte MJ, Gonzalez-Sanchez E, Tumer Z, Ladefoged K, Briz O, Marin JJ
Title
A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.
