标题：Compound heterozygosity with a novel {S222N} {GALT} mutation leads to atypical galactosemia with loss of {GALT} activity in erythrocytes but little evidence of clinical disease
摘要：Abstract Galactosemia is an inborn error of galactose metabolism caused by mutations in the {GALT} gene. Though early detection and galactose restriction prevent severe liver disease, affected individuals have persistently elevated biomarkers and often neuro-developmental symptoms. We present a teenage compound heterozygote for a known pathogenic mutation (H132Q) and a novel variant of unknown significance (S222N), with nearly absent erythrocyte {GALT} enzyme activity but normal biomarkers and only mild anxiety despite diet non-adherence. This case is similar to a previously reported {S135L} mutation. In this report we investigate the novel {S222N} variant and critically evaluate a clinically puzzling case.
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