title: Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.
abstract: 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>T (Q125X) and c.581G>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.
authors.affiliation: Department of Obstetrics and Gynecology, Boston University School of Medicine, Boston, MA, USA.
authors.forename: Laurel
authors.initials: L
authors.lastname: Calderwood
authors.affiliation: Division of Genetics and Genomics, Division of Endocrinology, Department of Medicine, Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA, USA Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Ingrid A
authors.initials: IA
authors.lastname: Holm
authors.affiliation: Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Teot
authors.affiliation: Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA irina.anselm@childrens.harvard.edu.
authors.forename: Irina
authors.initials: I
authors.lastname: Anselm
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000309:Adrenal Insufficiency / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002386:Cataract / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003241:Consanguinity; D003579:Cytochrome Reductases / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008928:Mitochondria / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009018:Morocco; D050862:Oxidoreductases Acting on Sulfur Group Donors; D010641:Phenotype; D055815:Young Adult
chemical_list: D003579:Cytochrome Reductases; C500897:GFER protein, human; D050862:Oxidoreductases Acting on Sulfur Group Donors
keywords: congenital cataracts; lactic acidosis; mitochondrial DNA (mtDNA) deletion; next generation panel