{"doi":"10.1177/0883073815587327","title":"Adrenal Insufficiency in Mitochondrial Disease","abstract":"<jats:p>GFER-related mitochondrial encephalomyopathy has been previously described only in 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. Multiple mitochondrial respiratory chain complex deficiencies were identified on muscle biopsy. We describe a now-19-year-old woman with adrenal insufficiency, lactic acidosis, congenital cataracts, and respiratory insufficiency secondary to mitochondrial disorder, who was reported by North et al (1996) as a toddler. Compound heterozygous GFER mutations c.373C&gt;T (Q125X) and c.581G&gt;A (R194 H) were recently discovered in this patient. The purpose of this report is (1) to expand the phenotype this ultra-rare disorder and (2) to provide a review of the literature describing the unique finding of adrenal insufficiency in patients with molecularly confirmed disorders of mitochondrial metabolism.</jats:p>","journal":"Journal of Child Neurology","year":2016,"id":630261,"datarank":0.5050943744979712,"base_score":3.367295829986474,"endowment":3.367295829986474,"self_citation_contribution":0.5050943744979712,"citation_network_contribution":0.0,"self_endowment_contribution":0.5050943744979712,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":28,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"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":289378,"name":"Ingrid A. Holm","orcid":"0000-0003-4712-8821","position":1,"is_corresponding":false},{"id":493200,"name":"Lisa A. Teot","orcid":null,"position":2,"is_corresponding":false},{"id":316940,"name":"Irina Anselm","orcid":"0000-0003-2089-0699","position":3,"is_corresponding":false},{"id":1086080,"name":"Laurel Calderwood","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Adrenal Insufficiency in Mitochondrial Disease","abstract":"<jats:p>GFER-related mitochondrial encephalomyopathy has been previously described only in 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. Multiple mitochondrial respiratory chain complex deficiencies were identified on muscle biopsy. We describe a now-19-year-old woman with adrenal insufficiency, lactic acidosis, congenital cataracts, and respiratory insufficiency secondary to mitochondrial disorder, who was reported by North et al (1996) as a toddler. Compound heterozygous GFER mutations c.373C&gt;T (Q125X) and c.581G&gt;A (R194 H) were recently discovered in this patient. The purpose of this report is (1) to expand the phenotype this ultra-rare disorder and (2) to provide a review of the literature describing the unique finding of adrenal insufficiency in patients with molecularly confirmed disorders of mitochondrial metabolism.</jats:p>","is_dataset_classified":null,"base_score":3.367295829986474,"endowment":3.367295829986474,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26018198","pmcid":null,"openalex_id":"https://openalex.org/W431238124","authors":[],"funders":[],"total_grants":0,"fwci":0.8268,"citation_percentile":0.708794,"influential_citations":0,"citation_trend":[{"year":2016,"count":2},{"year":2017,"count":2},{"year":2018,"count":2},{"year":2020,"count":4},{"year":2021,"count":6},{"year":2022,"count":4},{"year":2023,"count":2},{"year":2024,"count":2},{"year":2025,"count":3},{"year":2026,"count":1}],"oa_status":"closed","license":"https://journals.sagepub.com/page/policies/text-and-data-mining-license","oa_locations":[{"url":"https://journals.sagepub.com/doi/pdf/10.1177/0883073815587327","host_type":"publisher"},{"url":"https://journals.sagepub.com/doi/full-xml/10.1177/0883073815587327","host_type":"publisher"},{"url":"https://doi.org/10.1177/0883073815587327","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26018198","host_type":"repository"}],"fields_of_study":["Mitochondrial Function and Pathology","Metabolism and Genetic Disorders","Adrenal Hormones and Disorders"],"mesh_terms":["Acidosis, Lactic","Adrenal Insufficiency","Cataract","Consanguinity","Cytochrome Reductases","Family","Female","Humans","Mitochondria","Morocco","Phenotype","Mitochondrial Diseases","Oxidoreductases Acting on Sulfur Group Donors","Young Adult"],"keywords":["Adrenal insufficiency","Mitochondrial disease","Disease","Medicine","Internal medicine","Mitochondrial DNA","Biology","Genetics","Lactic Acidosis","Congenital Cataracts","Mitochondrial Dna (Mtdna) Deletion","Next Generation Panel"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T20:46:22.234247Z","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":[]}