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She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia. The patient was on a galactose\u2010free diet for 8\u2009months. Eventually, whole exome sequencing excluded the galactosemia and revealed PGM1\u2010CDG. Oral D\u2010galactose therapy was started. Rapid deterioration of the progressive dilated cardiomyopathy prompted heart transplantation at the age of 12\u2009months. Cardiac function was stable in the first 18\u2009months of follow\u2010up, and hematologic, hepatic, and endocrine laboratory findings improved during D\u2010galactose therapy. The latter therapy improves several systemic symptoms and biochemical abnormalities in PGM1\u2010CDG but does not correct the heart failure related to cardiomyopathy. Heart transplantation has so far only been described in DOLK\u2010CDG.<\/jats:p>","DOI":"10.1002\/jmd2.12350","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T23:48:12Z","timestamp":1669160892000},"page":"123-128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (<scp>PGM1\u2010CDG<\/scp>)"],"prefix":"10.1002","volume":"64","author":[{"given":"Ruqaiah","family":"Altassan","sequence":"first","affiliation":[{"name":"Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"},{"name":"College of Medicine Alfasial University  Riyadh Saudi Arabia"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimpna 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