Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway [PDF]
, 2018 Iron-sulfur clusters are evolutionarily conserved biological structures which play an important role as cofactor for multiple enzymes in eukaryotic cells.
Van Coster, Rudy, Vanlander, Arnaud
core +2 more sources
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
Frontiers in Pediatrics, 2023 The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei +8 more
doaj +1 more source
Zinc containing dental fixative causing copper deficiency myelopathy [PDF]
, 2017 A 62-year-old male, previously well, was referred to neurology clinic following 6 months history of worsening lower limbs instability, paraesthesia, pain and weakness rendering him housebound.
Abdul-Rahim, Azmil H. +2 more
core +1 more source
Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion [PDF]
, 1992 Documenta Ophthalmologica 1992, Volume 82, Issue 1-2, pp 73-79 Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Dr H. J. Simonsz, K. Bärlocher, A.
A Rötig +7 more
core +8 more sources
Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants. [PDF]
Case Rep HematolVitamin B6 (VB6) is a vital coenzyme for δ‐aminolevulinic acid synthase (ALAS) in heme biosynthesis. We report a 49‐year‐old male with severe microcytic anemia and ringed sideroblasts initially diagnosed as myelodysplastic syndrome (MDS). VB6 deficiency, attributed to long‐term amoxapine use, was identified.
Nakao S +7 more
europepmc +2 more sources
The Eye on Mitochondrial Disorders. [PDF]
, 2015 Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A. +2 more
core +2 more sources
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]
, 2015 Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E +13 more
core +2 more sources
Scientific Reports, 2022 Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi +13 more
doaj +1 more source
Mitochondrial DNA with a Large-Scale Deletion Causes Two Distinct Mitochondrial Disease Phenotypes in Mice [PDF]
, 2013 Studies in patients have suggested that the clinical phenotypes of some mitochondrial diseases might transit from one disease to another (e.g., Pearson syndrome [PS] to Kearns-Sayre syndrome) in single individuals carrying mitochondrial (mt) DNA with a ...
Hayashi Jun-Ichi +6 more
core +1 more source
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt +4 more
wiley +1 more source