Prenatal consequences of GALT deficiency in a rat model of classic galactosemia.

GALT-null fetal rats develop elevated galactose metabolites and growth delay in utero, but maternal heterozygosity can significantly reduce metabolite levels and rescue growth.

• Why it matters: Understanding prenatal effects of GALT deficiency is crucial because elevated galactose metabolites are observed in utero, yet their role in fetal outcomes remains unclear, impacting potential interventions for CG.
• What they did: The study used a GALT-null rat model with varied maternal and sibling genotypes to examine in utero metabolite levels and fetal growth, measuring amniotic fluid galactitol and fetal development at GD21.
• The result: Fetal growth delay occurs only when both dam and siblings are GALT-null, but maternal heterozygosity reduces galactitol levels and fully rescues fetal growth despite ongoing metabolite elevation, suggesting partial prenatal protection in carrier mothers.