Research & Literature

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

Danhauser K, Smeitink JA, Freisinger P, et al.

Journal of inherited metabolic disease 2015; (38(3)):467-75 doi:10.1007/s10545-014-9796-2.

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

Lorenzoni PJ, Werneck LC, Kay CS, et al.

Arquivos de neuro-psiquiatria 2015; (73(11)):959-67.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, et al.

Neurogenetics 2016; (17(1)):65-70 doi:10.1007/s10048-015-0465-x.

Perioperative considerations in adult mitochondrial disease: A case series and a review of 111 cases.

Miyamoto Y, Miyashita T, Takaki S, Goto T

Mitochondrion 2016; (26()):26-32.

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Cazzola M, Malcovati L

Hematology. American Society of Hematology. Education Program 2015; (2015()):19-25 doi:10.1182/asheducation-2015.1.19.

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.

Mangum JE, Hardee JP, Fix DK, et al.

Scientific reports 2016; (6()):26202 doi:10.1038/srep26202.

Posterior spinal instrumented fusion for idiopathic scoliosis in patients with multisystemic neurodegenerative disorder: a report of two cases.

Loh KW, Chan CY, Chiu CK, et al.

Journal of orthopaedic surgery (Hong Kong) 2016; (24(2)):273-7 doi:10.1177/1602400231.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Sommerville EW, Ng YS, Alston CL, et al.

JAMA neurology 2017; (74(6)):686-694 doi:10.1001/jamaneurol.2016.4357.

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Le Rouzic MA, Fouquet C, Leblanc T, et al.

Blood cells, molecules & diseases 2017; (66()):11-18 doi:10.1016/j.bcmd.2017.07.003.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, et al.

Haematologica 2018; (103(12)):2008-2015 doi:10.3324/haematol.2017.182659.

Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.

Fujiwara T, Harigae H

Free radical biology & medicine 2019; (133()):179-185 doi:10.1016/j.freeradbiomed.2018.08.008.

Pathophysiology and classification of iron overload diseases; update 2018.

Brissot P, Troadec MB, Loréal O, Brissot E

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2019; (26(1)):80-88 doi:10.1016/j.tracli.2018.08.006.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Tesarova M, Vondrackova A, Stufkova H, et al.

Pediatric blood & cancer 2019; (66(4)):e27591 doi:10.1002/pbc.27591.

Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.

Quadir A, Pontifex CS, Lee Robertson H, et al.

Neurology. Genetics 2019; (5(4)):e339 doi:10.1212/NXG.0000000000000339.

Advances in primary mitochondrial myopathies.

de Barcelos IP, Emmanuele V, Hirano M

Current opinion in neurology 2019; (32(5)):715-721 doi:10.1097/WCO.0000000000000743.

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.

Woods J, Cederbaum S

Molecular genetics and metabolism reports 2019; (21()):100517 doi:10.1016/j.ymgmr.2019.100517.

Propofol infusion syndrome complicated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a case report.

Shimizu J, Tabata T, Tsujita Y, et al.

Acute medicine & surgery 2020; (7(1)):e473 doi:10.1002/ams2.473.

A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.

Oncul U, Unal-Ince E, Kuloglu Z, et al.

Journal of pediatric hematology/oncology 2021; (43(4)):e592-e595 doi:10.1097/MPH.0000000000001806.

Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.

Uminski K, Houston DS, Hartley JN, et al.

Pediatric blood & cancer 2020; (67(10)):e28623 doi:10.1002/pbc.28623.

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options.

Abu-Zeinah G, DeSancho MT

Journal of blood medicine 2020; (11()):305-318 doi:10.2147/JBM.S232644.

Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection.

Sen K, Harrar D, Hahn A, et al.

Journal of neurology 2021; (268(11)):3988-3991 doi:10.1007/s00415-021-10538-1.

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.

Carreño-Gago L, Juárez-Flores DL, Grau JM, et al.

Journal of clinical medicine 2021; (10(16)) doi:10.3390/jcm10163471.

ECMO for Metabolic Crisis in a Patient with Mitochondrial Disease.

Sharma S, Deerman C, Andreae MH, Myler C

Case reports in anesthesiology 2021; (2021()):9914311 doi:10.1155/2021/9914311.

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Rudaks LI, Watson E, Oboudiyat C, et al.

American journal of medical genetics. Part A 2022; (188(7)):2226-2230 doi:10.1002/ajmg.a.62755.

Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

Hendrix CLF, van den Heuvel FMA, Rodwell L, et al.

Molecular genetics and metabolism 2022; (136(3)):219-225 doi:10.1016/j.ymgme.2022.05.004.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

Genes 2022; (13(9)) doi:10.3390/genes13091562.

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC

Orphanet journal of rare diseases 2022; (17(1)):379 doi:10.1186/s13023-022-02538-9.

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E, Labrum R, Sergeant K, et al.

European journal of human genetics : EJHG 2023; (31(2)):148-163 doi:10.1038/s41431-022-01249-w.

Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.

Schlieben LD, Prokisch H

Handbook of clinical neurology 2023; (194()):141-165 doi:10.1016/B978-0-12-821751-1.00011-7.

Anesthetic Management of a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome During Extensive Spinal Surgery With Both Motor Evoked Potentials and Somatosensory Evoked Potentials: A Case Report.

Salehpoor MS, Paluska MR, Falcon R, et al.

Cureus 2023; (15(10)):e47198 doi:10.7759/cureus.47198.

Mitochondrial tRNA pseudouridylation governs erythropoiesis.

Wang B, Shi D, Yang S, et al.

Blood 2024; (144(6)):657-671 doi:10.1182/blood.2023022004.

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.

Kothari SS, Shah J, Sharma V, et al.

BMC medical genomics 2024; (17(1)):213 doi:10.1186/s12920-024-01983-8.

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia.

Cai J, Liu T, Huang Y, et al.

Frontiers in pediatrics 2024; (12()):1411676 doi:10.3389/fped.2024.1411676.

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)- a cross-sectional study.

Stoevesandt D, Schlitt A, Röntgen P, Kraya T

Orphanet journal of rare diseases 2025; (20(1)):62 doi:10.1186/s13023-025-03534-5.

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study.

Al Kindi S, Al-Mamari A, Al-Zadjali S, et al.

Frontiers in medicine 2024; (11()):1452873 doi:10.3389/fmed.2024.1452873.

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Rekaya S, Ben Fraj I, Hamdi R, et al.

Annals of hematology 2025; (104(4)):2537-2543 doi:10.1007/s00277-025-06266-5.

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

Jové-Solavera D, Rámila M, Ferrer-Cortés X, et al.

Scientific reports 2025; (15(1)):11843 doi:10.1038/s41598-025-95590-x.

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

Eisenkölbl A, Lochmüller H, Carter MT, et al.

Journal of neuromuscular diseases 2026; (13(4)):802-807 doi:10.1177/22143602251369227.

[The 511th case: severe anemia with increased ringed sideroblasts].

Liu ZW, Chen M, Han B

Zhonghua nei ke za zhi 2025; (64(9)):906-910 doi:10.3760/cma.j.cn112138-20250616-00348.

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.

Yuan JH, Higuchi Y, Ando M, et al.

Journal of human genetics 2026; (71(5)):275-282 doi:10.1038/s10038-025-01437-8.

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Ferrera G, Segre G, Lamantea E, et al.

Frontiers in pediatrics 2025; (13()):1699348 doi:10.3389/fped.2025.1699348.

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.

Villafán-Bernal JR, Rosas-Hernández J, García-Ortiz H, et al.

International journal of molecular sciences 2025; (26(24)) doi:10.3390/ijms262412039.

Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.

Villafan-Bernal JR, Martínez-Hernández A, García-Ortiz H, et al.

Current issues in molecular biology 2026; (48(1)) doi:10.3390/cimb48010095.

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.

Abbas AA, Monagel DA, Althubaiti SJ

Saudi journal of medicine & medical sciences 2026; (14(1)):96-99 doi:10.4103/sjmms.sjmms_716_25.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Mancuso M, Bellusci M, Carelli V, et al.

European journal of neurology 2026; (33(4)):e70588 doi:10.1111/ene.70588.

Peritoneal Dialysis for End-Stage Kidney Disease due to Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Case Report.

Chan Z, Chan KL, Lam CK, et al.

Nephrology (Carlton, Vic.) 2026; (31(9)):e70283 doi:10.1111/nep.70283.

Glutaric acidemia type 2 presenting as a surgical acute abdomen: a case of unnecessary exploratory laparotomy in an adult.

Bilal PK, Erkoç SK, Polat B, et al.

Archive of clinical cases 2026; (13(3)):108-111 doi:10.22551/2026.52.1303.10350.