Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy

We report a 20-month-old boy, born to consanguineous parents, who initially received a misdiagnosis of galactosemia following abnormal newborn screening. Despite dietary modifications, he developed persistent transaminitis, coagulopathy, hypotonia, and delayed motor milestones. Further evaluation revealed abnormal carbohydrate-deficient transferrin analysis, and whole exome sequencing identified a homozygous PGM1 variant of uncertain significance, supporting CDG Type 1T diagnosis.