Research & Literature

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.

Mikstiene V, Songailiene J, Byckova J, et al.

American journal of medical genetics. Part A 2015; (167(7)):1605-9 doi:10.1002/ajmg.a.37015.

Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.

Manimaran P, Subramanian VS, Karthi S, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (452()):44-9.

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Pomahačová R, Zamboryová J, Sýkora J, et al.

Pediatric diabetes 2017; (18(8)):844-847 doi:10.1111/pedi.12479.

Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation.

Potter K, Wu J, Lauzon J, Ho J

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(2)):241-246.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.

Katipoğlu N, Karapinar TH, Demir K, et al.

Archivos argentinos de pediatria 2017; (115(3)):e153-e156 doi:10.5546/aap.2017.eng.e153.

LONG-TERM MULTIMODAL IMAGING OF OCULAR FINDINGS ASSOCIATED WITH THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA.

Tsui E, Tauber J, Barbazetto I, Gelman SK

Retinal cases & brief reports 2020; (14(3)):247-250 doi:10.1097/ICB.0000000000000686.

Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation.

Karimzadeh P, Moosavian T, Moosavian H

Iranian journal of child neurology 2018; (12(1)):84-88.

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, et al.

Diabetologia 2018; (61(5)):1027-1036 doi:10.1007/s00125-018-4554-x.

Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

Moulin V, Grandoni F, Castioni J, Lu H

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225035.

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.

Xian X, Liao L, Shu W, et al.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018; (47(5)):1989-1997 doi:10.1159/000491467.

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

Lu H, Lu H, Vaucher J, et al.

La Revue de medecine interne 2019; (40(1)):20-27 doi:10.1016/j.revmed.2018.06.005.

Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.

Khurshid A, Fatimah S, Altaf C, et al.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2018; (28(9)):S169-S171 doi:10.29271/jcpsp.2018.09.S169.

"It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease.

Currie G, Szabo J

Child: care, health and development 2019; (45(1)):96-103 doi:10.1111/cch.12628.

Arrhythmia in thiamine responsive megaloblastic anemia syndrome.

Argun M, Baykan A, Hatipoğlu N, et al.

The Turkish journal of pediatrics 2018; (60(3)):348-351.

Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.

Jungtrakoon P, Shirakawa J, Buranasupkajorn P, et al.

Diabetes 2019; (68(5)):1084-1093 doi:10.2337/db17-0821.

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, et al.

Journal of inherited metabolic disease 2019; (42(4)):581-597 doi:10.1002/jimd.12125.

An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome.

Kutlucan A

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2019; (29(6)):S13-S15 doi:10.29271/jcpsp.2019.06.S13.

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.

Amr K, Pawlikowska P, Aoufouchi S, et al.

Molecular genetics & genomic medicine 2019; (7(7)):e00777 doi:10.1002/mgg3.777.

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.

Li X, Cheng Q, Ding Y, et al.

BMC pediatrics 2019; (19(1)):233 doi:10.1186/s12887-019-1608-2.

Relapse of rare diseases during COVID-19 pandemic: bicytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

Nouira N, Mansouri R, Tlili R, et al.

The Pan African medical journal 2020; (35(Suppl 2)):139 doi:10.11604/pamj.supp.2020.35.139.25368.

Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries.

Warncke K, Prinz N, Iotova V, et al.

Canadian journal of diabetes 2021; (45(6)):539-545 doi:10.1016/j.jcjd.2020.11.006.

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.

Zhang S, Qiao Y, Wang Z, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (516()):157-168 doi:10.1016/j.cca.2021.01.025.

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.

Enogieru OJ, Koleske ML, Vora B, et al.

The AAPS journal 2021; (23(2)):35 doi:10.1208/s12248-021-00562-4.

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Kang P, Zhang W, Wen J, et al.

Frontiers in pediatrics 2021; (9()):630329 doi:10.3389/fped.2021.630329.

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.

Wu S, Yuan Z, Sun Z, et al.

American journal of medical genetics. Part A 2022; (188(3)):948-952 doi:10.1002/ajmg.a.62582.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

Tumienė B, Del Toro Riera M, Grikiniene J, et al.

Journal of multidisciplinary healthcare 2022; (15()):553-566 doi:10.2147/JMDH.S251863.

Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.

Walton H, Simpson A, Ramsay AIG, et al.

Orphanet journal of rare diseases 2022; (17(1)):171 doi:10.1186/s13023-022-02321-w.

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.

Mohsen-Pour N, Naderi N, Ghasemi S, et al.

Laboratory medicine 2022; (53(6)):640-650 doi:10.1093/labmed/lmac040.

Outcomes of End-User Testing of a Care Coordination Mobile App With Families of Children With Special Health Care Needs: Simulation Study.

Wong W, Ming D, Pateras S, et al.

JMIR formative research 2023; (7()):e43993 doi:10.2196/43993.

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.

Di Candia F, Di Iorio V, Tinto N, et al.

Italian journal of pediatrics 2023; (49(1)):158 doi:10.1186/s13052-023-01553-1.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia.

Kaur G, Ahuja A, Sen A, et al.

Indian journal of pathology & microbiology 2025; (68(1)):158-160 doi:10.4103/ijpm.ijpm_287_23.

Thiamine-Responsive Megaloblastic Anaemia With Hypothyroidism, A Puzzling Association.

Rai VR, Ibrahim MN, Javed MN, et al.

Journal of Ayub Medical College, Abbottabad : JAMC 2023; (35(Suppl 1)(4)):S804-S806 doi:10.55519/JAMC-S4-12486.

Survey of patient satisfaction with genetic counseling services in Korea.

Choi IH, Kim YK, Yang SY, et al.

Journal of genetic counseling 2025; (34(1)):e1922 doi:10.1002/jgc4.1922.

Preferences for coordinated care for rare diseases: discrete choice experiment.

Morris S, Walton H, Simpson A, et al.

Orphanet journal of rare diseases 2024; (19(1)):332 doi:10.1186/s13023-024-03353-0.

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Klötzer C, Schnabel F, Kubasch AS, et al.

Acta haematologica 2025; (148(4)):380-385 doi:10.1159/000542286.

Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation.

Marfatia H, Sahai A, Narkhede K, Sharma M

Journal of otology 2024; (19(3)):163-165 doi:10.1016/j.joto.2024.05.001.

4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.

Qin Y, Zhang X, Ye Y, et al.

Endokrynologia Polska 2025; (76(1)):108-115 doi:10.5603/ep.101404.

Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene.

Shi Y, Li J, Chen X, et al.

Brazilian journal of otorhinolaryngology 2025; (91(4)):101581 doi:10.1016/j.bjorl.2025.101581.

The increasing role of genetic counseling in pediatric oncology.

Clark ME, McGee RB, Zelley K

Current opinion in pediatrics 2026; (38(1)):65-72 doi:10.1097/MOP.0000000000001525.

Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management.

Yılmaz UC, Bhriguvanshi A, Özalp Kızılay D, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(7)):733-740 doi:10.1515/jpem-2025-0670.

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report.

Jiménez FX, Rojas C, Fernandez HA, et al.

Journal of medical case reports 2026; (20(1)).

Early thiamine therapy in Rogers syndrome: Systematic review of hematologic, auditory and glycemic outcomes.

Upadhyay Z, Sudani S, Jain A

Bioinformation 2026; (22(1)):26-30 doi:10.6026/973206300220026.

Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series.

Roshan R, Mehboob M, Latif R, et al.

Advanced biomedical research 2026; (15()):24 doi:10.4103/abr.abr_16_24.

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an SLC19A2 c.1223+1G>A Founder Mutation.

Gurzhikhanova M, Fomenko S, Chekanov N, et al.

International journal of molecular sciences 2026; (27(14)) doi:10.3390/ijms27146274.

Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.

de Oliveira BM, Broch MS, de Oliveira CP, et al.

Journal of community genetics 2026; (17(5)).

Could thiamine supplementation delay the progression of retinal dystrophy in Rogers syndrome?

Jung EH, Miltich M, Vidaurri-Martinez J, et al.

Ophthalmic genetics 2026; 1-5 doi:10.1080/13816810.2026.2736738.

Beyond illness severity: transdiagnostic cognitive vulnerabilities as independent predictors of psychological distress in parents of children with rare genetic disorders.

Cuturilo G, Vukosavljevic Gvozden T, Gvozden M, et al.

Frontiers in psychiatry 2026; (17()):1963031 doi:10.3389/fpsyt.2026.1963031.

Using Interpretative Phenomenological Analysis to Explore the Experiences of Mothers Who Have a Child With the Rare Genetic Disorder, HNRNPU-Related Neurodevelopmental Disorder: "Some Days, I Wear a Cape and I'm Super Mom and Some Days, I Have to Hide Under My Cape and I Can't Get Out for a Few Days".

Overton I, Docherty F, Balasubramanian M

Journal of genetic counseling 2026; (35(5)).