2025/05/01 by Kara Simpson, Erin MacLeod, James Clayton +5 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Amino Acid Enzymes and Metabolism #Metabolism and Genetic Disorders #Neonatal Health and Biochemistry
paper · pdf · doi:10.1002/jmd2.70016
openalex publication_date 2025/05/01 · openalex created_date 2025/05/11 · openalex updated_date 2026/07/22
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.