Hereditary hyperbilirubinemia

Hereditary hyperbilirubinemia
Classification and external resources
Specialty	endocrinology
ICD-10	E80.4-E80.6
ICD-9-CM	277.4
eMedicine	med/1065 med/1066
MeSH	D006933

Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be attributed to a metabolic disorder.

An example is Crigler-Najjar syndrome.

Symptoms

UGT1A1 gene mutations causes the condition. As a result, there can be reduced functionality of the bilirubin-UGT enzyme. Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ability of the enzyme.^[1]

References

↑ http://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome

External links

http://www.som.tulane.edu/classware/pathology/medical_pathology/New_for_99/liver_gb/sld017.htm
Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL (August 1989). "Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia". J. Clin. Invest. 84 (2): 476–83. doi:10.1172/JCI114189. PMC 548906. PMID 2760197.

Heme metabolism disorders (E80, 277.1, 277.4)

Porphyria,
hepatic and erythropoietic
(porphyrin)

early mitochondrial:	ALAD porphyria Acute intermittent porphyria

cytoplasmic:	Gunther disease/congenital erythropoietic porphyria Porphyria cutanea tarda/Hepatoerythropoietic porphyria

late mitochondrial:	Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria

Hereditary hyperbilirubinemia
(bilirubin)

unconjugated:	Gilbert's syndrome Crigler–Najjar syndrome Lucey–Driscoll syndrome

conjugated:	Dubin–Johnson syndrome Rotor syndrome

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