{"doi":"10.3803/enm.2020.35.1.188","title":"Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison&amp;apos;s Disease","abstract":"<jats:p>X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G&gt;A).</jats:p>","journal":"Endocrinology and Metabolism","year":2020,"id":612017,"datarank":0.1090749210477508,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.005102843963758979,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.005102843963758979,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":1,"citers_with_citation_signal":1,"citers_with_endowment":1,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1515410,"name":"Seo-Young Lee","orcid":null,"position":1,"is_corresponding":false},{"id":1575590,"name":"Sang-Wook Kim","orcid":"0000-0001-7445-3860","position":2,"is_corresponding":false},{"id":256035,"name":"Yun Kyung Cho","orcid":"0000-0002-4089-1376","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison&amp;apos;s Disease","abstract":"<jats:p>X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G&gt;A).</jats:p>","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"32207279","pmcid":"PMC7090298","openalex_id":"https://openalex.org/W3012808522","authors":[],"funders":[{"funder_name":"Korean Endocrine Society","grant_id":"","title":null}],"total_grants":1,"fwci":0.0746,"citation_percentile":0.38291065,"influential_citations":0,"citation_trend":[{"year":2022,"count":1}],"oa_status":"gold","license":"cc-by-nc","oa_locations":[{"url":"https://www.e-enm.org/upload/pdf/enm-35-188.pdf","host_type":"journal"},{"url":"https://www.e-enm.org/upload/pdf/enm-35-188.pdf","host_type":"publisher"},{"url":"http://e-enm.org/upload/pdf/enm-35-188.pdf","host_type":"publisher"},{"url":"http://e-enm.org/journal/view.php?doi=10.3803/EnM.2020.35.1.188","host_type":"publisher"},{"url":"https://doi.org/10.3803/enm.2020.35.1.188","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/32207279","host_type":"repository"},{"url":"https://doaj.org/article/5c47381704ca42a18f0dbd9820eec543","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7090298","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7090298","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7090298?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Peroxisome Proliferator-Activated Receptors","Metabolism and Genetic Disorders","Adrenal Hormones and Disorders"],"mesh_terms":["ATP Binding Cassette Transporter, Subfamily D, Member 1","Addison Disease","Adrenoleukodystrophy","Adult","Humans","Male","Mutation","Prognosis","Young Adult"],"keywords":["Adrenoleukodystrophy","Adrenal insufficiency","Peroxisomal disorder","Peroxisome","Mutation","Gene","Medicine","Primary Adrenal Insufficiency","Leukodystrophy","Genetics","Disease","Internal medicine","Endocrinology","Biology","Genetic diseases","Addison Disease"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"},{"name":"doi"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-02T00:57:17.287761Z","pmid":null,"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":[]}