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Summary We present the case of a new variant of congenital galactosemia (CG). This is the first child of a related couple. At birth, the child has an acute fetal distress with poor adaptation to extra-uterine life but quickly resolutive. The newborn is breastfed but the first two weeks of life are marked by poor food intake, vomiting and drowsiness. At 16 days of life, he was hospitalised and clinical examination showed a malnutrition, axial hypotonia without hepatomegaly. Laboratory tests showed moderate jaundice, hepatic cytolysis and a decrease of clotting factors. Faced with this picture of hepatocellular insufficiency, breastfeeding is immediately stopped and replaced with a lactose-free milk. Clinical and nutritional improvement was spectacular. The realization of a GC screening allows the diagnosis, confirmed by the study of the gene GALT . Genetic analysis identified a new pathogenic mutation in exon 5: c.382G>A, at a homozygous state (genotype p.[Val128Ile] + [Val128Ile]). After 4 months of treatment, the child has caught up weight, his neurological development is consistent with age but it has unfortunately bilateral cataract. The management of our patient illustrates the efficiency of the medical management and the importance of achieving early detection of this disease.