Icterus intermittens juvenilis Meulengracht; Gilbert-Syndrom; Morbus Meulengracht; Gilbert-Meulengracht-Syndrom; E80.6

Common familial hyperbilirubin syndrome with intermittent benign familial constitutional hyperbilirubinemia(jaundice).

Autosomal-dominant inherited deficiency of UPD-glucuronyltransferase. Mutation in the UDPGT1A1 gene, usually additional nucleotide pair in the promoter region of the first exon (TATA7 instead of TATA6).

Age of manifestation usually around the age of 20.

• Skin: Intermittent (scleral) icterus, tendency to develop melanocytic nevi, xanthelasma and nevi flammei around the eyelids.
• General: mostly asymptomatic. Occasionally constipation, headache, fatigue, dyspeptic complaints.

The unconjugated (indirect) bilirubin is elevated, the transaminases are usually normal.

1. Gilbert A, Castaigne MJ, Lereboullet P (1900) De l'ictère familial. Contribution à l'étude de la diathèse biliaire. Bull de la Société des médecins des hôpitaux de Lyon 17: 948-959
2. Gilbert A, Lereboullet P (1901) La cholémie simple familiale. Semaine médicale (Paris) 21: 241-243
3. Meulengracht E (1939) Icterus intermittens juvenilis (chronic intermittent juvenile subicterus). Klin Wochenschr (Berlin) 45: 118-121