Orthotopic Liver Transplantation in a Patient With GALT p.Ser135Leu/Null

Orthotopic Liver Transplantation in a Patient With GALT p.Ser135Leu/Null

ABSTRACT We report the case of a now 12‐year‐old male compound heterozygous for a novel GALT null variant and the p.Ser135Leu variant, associated with clinical variant galactosemia. This patient presented with fulminant liver failure at age 2 months requiring liver transplant. Despite initial detect...

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Bibliographic Details
Main Authors: Kara Simpson, Erin L. MacLeod, Julia Clayton, Nada A. Yazigi, M. Estela Rubio‐Gozalbo, Judith L. Fridovich‐Keil, Gerard T. Berry, Nicholas Ah Mew
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:JIMD Reports
Subjects:
galactose‐1‐phosphate
galactose‐1‐phosphate uridylyltransferase deficiency
galactosemia
liver transplant
newborn screening
Online Access:https://doi.org/10.1002/jmd2.70016
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https://doi.org/10.1002/jmd2.70016

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