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Bi\u2010allelic pathogenic variants in <jats:italic>PIGO<\/jats:italic> lead to a congenital disorder of glycosylation (CDG) characterized by global developmental delay, an increase in serum alkaline phosphatase levels, congenital anomalies including anorectal, genitourinary, and limb malformations in most patients; this phenotype has been alternately called \u201cMabry syndrome\u201d or \u201chyperphosphatasia with impaired intellectual development syndrome 2.\u201d We report a 22\u2010month\u2010old female with PIGO deficiency caused by novel <jats:italic>PIGO<\/jats:italic> variants. In addition to the Mabry syndrome phenotype, our patient's clinical picture was complicated by intermittent hypoglycemia with signs of functional hyperinsulinism, severe secretory diarrhea, and osteopenia with a pathological fracture, thus, potentially expanding the known phenotype of this disorder, although more studies are necessary to confirm these associations. We also provide an updated review of the literature, and propose unifying the nomenclature of PIGO deficiency as \u201cPIGO\u2010CDG,\u201d which reflects its pathophysiology and position in the broad scope of metabolic disorders and congenital disorders of glycosylation.<\/jats:p>","DOI":"10.1002\/jmd2.12396","type":"journal-article","created":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T01:54:04Z","timestamp":1695261244000},"page":"424-433","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp>PIGO\u2010CDG<\/scp>: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2350-7192","authenticated-orcid":false,"given":"Rodrigo Tzovenos","family":"Starosta","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University in St. Louis  Clayton Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nino","family":"Kerashvili","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology Washington University in St. Louis  Clayton Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Pruitt","sequence":"additional","affiliation":[{"name":"Division of Academic Pediatrics, Department of Pediatrics Washington University in St. Louis  Clayton Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Schultz","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne W.","family":"Boyer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Laura Duque","family":"Lasio","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University in St. Louis  Clayton Missouri USA"},{"name":"Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology Washington University in St. Louis  Clayton Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7425-6322","authenticated-orcid":false,"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University in St. Louis  Clayton Missouri 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