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Highly Elevated Plasma γ‐Glutamyltransferase Elevations: A Trait Caused by γ‐Glutamyltransferase 1 Transmembrane Mutations
Author(s) -
Grandi Alessandro,
Franzini Maria,
Rosipal Štefan,
Rosipal Rastislav,
Debreova Marianna,
Corti Alessandro,
RuetzlerDichtl Elisabeth,
SchollBürgi Sabine,
Paolicchi Aldo,
Pompella Alfonso,
Emdin Michele,
Zampa Germano,
Witt Heiko,
Zoller Heinz,
Tilg Herbert,
Mayatepek Ertan,
Herebian Diran,
Pramstaller Peter P.,
Müller Thomas,
Janecke Andreas R.
Publication year - 2020
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.30944
Subject(s) - gamma glutamyltransferase , medicine , mutation , endocrinology , genetics , biology , gastroenterology , biochemistry , enzyme , gene
Assay of γ-glutamyl transferase (GGT) activity is a widely used test to indicate and monitor liver and biliary tract injury. We observed dominant inheritance of highly elevated plasma GGT levels, designated GGTemia, in two unrelated families. Neither clinical symptoms nor alterations of GGT substrates were associated with GGTemia. A plasma GGT fractions pattern distinguishes this trait from common liver diseases. Heterozygous GGT1 mutations that disrupt the GGT1 transmembrane domain were identified. We establish GGTemia as a benign condition; GGT1 mutation testing can prevent repeated and invasive diagnostic workup in such patients.