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

## TL;DR

A child with a rare genetic condition required a liver transplant due to severe liver failure and still shows some metabolic abnormalities despite treatment.

## Contribution

This case highlights the risk of severe liver disease in compound heterozygotes with specific GALT variants and delayed treatment.

## Key findings

- Compound heterozygosity for p.Ser135Leu and a GALT null variant can lead to fulminant liver failure in newborns.
- Delayed dietary intervention increases the risk of end-stage liver disease in these patients.
- Post-transplant, the patient still shows elevated galactose metabolites despite dietary restrictions.

## 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 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.