{"doi":"10.1002/jimd.12527","title":"<scp>ALG8‐CDG</scp>: Molecular and phenotypic expansion suggests clinical management guidelines","abstract":"Congenital disorders of glycosylation are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly manifest with multisystem involvement. Individuals with ALG8-CDG commonly present with hypotonia, protein-losing enteropathy, and hepatic involvement. Here, we describe seven unreported individuals diagnosed with ALG8-CDG based on biochemical and molecular testing and we identify nine novel variants in ALG8, bringing the total to 26 individuals with ALG8-CDG in the medical literature. In addition to the typical multisystem involvement documented in ALG8-CDG, our cohort includes the two oldest patients reported and further expands the phenotype of ALG8-CDG to include stable intellectual disability, autism spectrum disorder and other neuropsychiatric symptoms. We further expand the clinical features in a variety of organ systems including ocular, musculoskeletal, dermatologic, endocrine, and cardiac abnormalities and suggest a comprehensive evaluation and monitoring strategy to improve clinical management.","journal":"Journal of Inherited Metabolic Disease","year":2022,"id":269667,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":15,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9436,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":32986,"name":"Bobby G. Ng","orcid":"0000-0003-0649-848X","position":1,"is_corresponding":false},{"id":933351,"name":"Alis Guberinic","orcid":null,"position":2,"is_corresponding":false},{"id":305003,"name":"Earnest James Paul Daniel","orcid":"0000-0003-1706-0395","position":3,"is_corresponding":false},{"id":718131,"name":"Nicole Engelhardt","orcid":"0000-0003-0499-0884","position":4,"is_corresponding":false},{"id":314219,"name":"Rita Barone","orcid":"0000-0001-6302-2686","position":5,"is_corresponding":false},{"id":314225,"name":"Agata Fiumara","orcid":"0000-0003-3216-2154","position":6,"is_corresponding":false},{"id":659015,"name":"Livia Garavelli","orcid":"0000-0002-7684-3982","position":7,"is_corresponding":false},{"id":933352,"name":"Gabriele Trimarchi","orcid":null,"position":8,"is_corresponding":false},{"id":70651,"name":"Lynne A. Wolfe","orcid":"0000-0001-7628-5741","position":9,"is_corresponding":false},{"id":296369,"name":"Kimiyo Raymond","orcid":"0000-0002-3282-7286","position":10,"is_corresponding":false},{"id":314243,"name":"Éva Morava","orcid":"0000-0001-7441-700X","position":11,"is_corresponding":false},{"id":932882,"name":"Miao He","orcid":"0000-0003-0003-2283","position":12,"is_corresponding":false},{"id":32931,"name":"Hudson H. Freeze","orcid":"0000-0001-6316-0501","position":13,"is_corresponding":false},{"id":314230,"name":"Christina Lam","orcid":"0000-0003-4705-6434","position":14,"is_corresponding":false},{"id":296353,"name":"Andrew C. Edmondson","orcid":"0000-0003-0313-0743","position":15,"is_corresponding":false},{"id":717206,"name":"Daniah Albokhari","orcid":"0000-0001-7380-0760","position":0,"is_corresponding":true}],"reference_count":37,"raw_metadata":null,"created_at":"2026-07-19T00:27:22.602796Z","pmid":"35716054","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}