Academic Journal
Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null
| Title: | Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null |
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| 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 |
| Source: | JIMD Rep JIMD Reports, Vol 66, Iss 3, Pp n/a-n/a (2025) |
| Publisher Information: | Wiley, 2025. |
| Publication Year: | 2025 |
| Subject Terms: | galactose-1-phosphate uridylyltransferase deficiency, liver transplant, galactose‐1‐phosphate uridylyltransferase deficiency, newborn screening, galactose-1-phosphate, Genetics, Case Report, QH426-470, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, galactose‐1‐phosphate, galactosemia |
| Description: | 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 detection by newborn screening, a misinterpretation of results led to delayed diagnosis and treatment. While the p.Ser135Leu GALT variant is often associated with a milder long‐term phenotype, this case highlights that newborns compound heterozygous for p.Ser135Leu and a null variant are at risk of end‐stage liver disease if not immediately switched to a low‐galactose diet. Surprisingly, despite the transplant with an ostensibly normal liver and continued dietary galactose restriction, this patient continues to show mildly elevated RBC Gal‐1‐P and urine galactitol. |
| Document Type: | Article Other literature type |
| Language: | English |
| ISSN: | 2192-8312 |
| DOI: | 10.1002/jmd2.70016 |
| Access URL: | https://pubmed.ncbi.nlm.nih.gov/40352451 https://doaj.org/article/543367f5ce4b4833894e4073c0c4b45d |
| Rights: | CC BY |
| Accession Number: | edsair.doi.dedup.....694311b78fdf93397783f658ece7413f |
| Database: | OpenAIRE |
| ISSN: | 21928312 |
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| DOI: | 10.1002/jmd2.70016 |