Research & Literature

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.

Tabarki B, Alfadhel M, AlShahwan S, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015; (19(5)):547-52.

Wernicke's Encephalopathy: Increasing Clinician Awareness of This Serious, Enigmatic, Yet Treatable Disease.

Flynn A, Macaluso M, D'Empaire I, Troutman MM

The primary care companion for CNS disorders 2015; (17(3)) doi:10.4088/PCC.14r01738.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, et al.

Brain : a journal of neurology 2016; (139(Pt 1)):31-8 doi:10.1093/brain/awv342.

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

Flønes I, Sztromwasser P, Haugarvoll K, et al.

PloS one 2016; (11(2)):e0149055 doi:10.1371/journal.pone.0149055.

A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Aljabri MF, Kamal NM, Arif M, et al.

Medicine 2016; (95(40)):e4819 doi:10.1097/MD.0000000000004819.

Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.

Algahtani H, Ghamdi S, Shirah B, et al.

Neurological research 2017; (39(2)):117-125 doi:10.1080/01616412.2016.1263176.

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

Ferreira CR, Whitehead MT, Leon E

American journal of medical genetics. Part A 2017; (173(6)):1502-1513 doi:10.1002/ajmg.a.38189.

Depletion of biotin using streptavidin-coated microparticles: a validated solution to the problem of biotin interference in streptavidin-biotin immunoassays.

Trambas C, Lu Z, Yen T, Sikaris K

Annals of clinical biochemistry 2018; (55(2)):216-226 doi:10.1177/0004563217707783.

High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.

Suzuki K, Yamada K, Fukuhara Y, et al.

PloS one 2017; (12(6)):e0180279 doi:10.1371/journal.pone.0180279.

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Whitford W, Hawkins I, Glamuzina E, et al.

Cold Spring Harbor molecular case studies 2017; (3(6)) doi:10.1101/mcs.a001909.

Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.

Alfadhel M, Al-Bluwi A

Child neurology open 2017; (4()):2329048X17730742 doi:10.1177/2329048X17730742.

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.

Alfadhel M, Tabarki B

Neuropediatrics 2018; (49(2)):83-92 doi:10.1055/s-0037-1607191.

Association of Biotin Ingestion With Performance of Hormone and Nonhormone Assays in Healthy Adults.

Li D, Radulescu A, Shrestha RT, et al.

JAMA 2017; (318(12)):1150-1160 doi:10.1001/jama.2017.13705.

Misdiagnosis of Graves' hyperthyroidism due to therapeutic biotin intervention.

De Roeck Y, Philipse E, Twickler TB, Van Gaal L

Acta clinica Belgica 2018; (73(5)):372-376 doi:10.1080/17843286.2017.1396676.

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Tonduti D, Invernizzi F, Panteghini C, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(2)):332-335 doi:10.1016/j.ejpn.2017.11.012.

Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance.

Alabdulqader MA, Al Hajjaj S

Child neurology open 2018; (5()):2329048X18773218 doi:10.1177/2329048X18773218.

Fake news? Biotin interference in thyroid immunoassays.

Koehler VF, Mann U, Nassour A, Mann WA

Clinica chimica acta; international journal of clinical chemistry 2018; (484()):320-322 doi:10.1016/j.cca.2018.05.053.

Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?

Kamaşak T, Havalı C, İnce H, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(6)):1139-1149 doi:10.1016/j.ejpn.2018.06.009.

Susceptibility of Cardiac Troponin Assays to Biotin Interference.

Frame IJ, Joshi PH, Mwangi C, et al.

American journal of clinical pathology 2019; (151(5)):486-493 doi:10.1093/ajcp/aqy172.

[Paroxysmal crying and motor regression for more than two months in an infant].

Wen YX, Wang JP, Chen Y, Bao XH

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(4)):399-404.

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.

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

Alfadhel M, Umair M, Almuzzaini B, et al.

Annals of clinical and translational neurology 2019; (6(10)):2097-2103 doi:10.1002/acn3.50898.

Thiamine transporter 2 is involved in high glucose-induced damage and altered thiamine availability in cell models of diabetic retinopathy.

Beltramo E, Mazzeo A, Lopatina T, et al.

Diabetes & vascular disease research 2020; (17(1)):1479164119878427 doi:10.1177/1479164119878427.

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

Değerliyurt A, Gündüz M, Ceylaner S, et al.

The Turkish journal of pediatrics 2019; (61(2)):261-266.

[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].

Gao M, Huang Y, Zhang K, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(2)):162-165 doi:10.3760/cma.j.issn.1003-9406.2020.02.016.

AACC Guidance Document on Biotin Interference in Laboratory Tests.

Li D, Ferguson A, Cervinski MA, et al.

The journal of applied laboratory medicine 2020; (5(3)):575-587 doi:10.1093/jalm/jfz010.

Sense and nonsense concerning biotin interference in laboratory tests.

Moerman A, Delanghe JR

Acta clinica Belgica 2022; (77(1)):204-210 doi:10.1080/17843286.2020.1780770.

Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.

Kılıç B, Topçu Y, Dursun Ş, et al.

Brain & development 2020; (42(8)):572-580 doi:10.1016/j.braindev.2020.05.008.

Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement.

Kelsch RD, Nolan DA, Krishnan A

Pediatric radiology 2021; (51(3)):485-488 doi:10.1007/s00247-020-04829-4.

Bilateral symmetrical deep gray matter involvement and leptomeningeal enhancement in a child with MOG-IgG-associated encephalomyelitis.

Shen W, Zhang Y, Zhou C, Shen Y

BMC neurology 2021; (21(1)):10 doi:10.1186/s12883-020-02041-3.

Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder.

Saini AG, Sharma S

Annals of Indian Academy of Neurology 2021; (24(2)):173-177 doi:10.4103/aian.AIAN_952_20.

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Wang J, Wang J, Han X, et al.

Frontiers in genetics 2021; (12()):683255 doi:10.3389/fgene.2021.683255.

Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Wesół-Kucharska D, Greczan M, Kaczor M, et al.

Molecular genetics and metabolism reports 2021; (29()):100801 doi:10.1016/j.ymgmr.2021.100801.

Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.

Al-Anezi A, Sotirova-Koulli V, Shalaby O, et al.

Brain & development 2022; (44(4)):303-307 doi:10.1016/j.braindev.2021.12.003.

Identification of Wernicke Encephalopathy in a Patient Presenting With Altered Mental Status and Dehydration.

Hernandez L, Brockman T, Mehta T

WMJ : official publication of the State Medical Society of Wisconsin 2022; (121(1)):E10-E14.

Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.

Oommen AT, Polavarapu K, Christopher R, Netravathi M

Neurology India 2022; (70(2)):733-736 doi:10.4103/0028-3886.344659.

Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.

Alsini H, Alnozha A, Asmat Z, et al.

Brain & development 2022; (44(9)):618-622 doi:10.1016/j.braindev.2022.06.009.

Impaired Thiamine Metabolism in Amyotrophic Lateral Sclerosis and Its Potential Treatment With Benfotiamine: A Case Report and a Review of the Literature.

Mann RH

Cureus 2023; (15(6)):e40511 doi:10.7759/cureus.40511.

Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis.

Thompson ZE, Boyd NK, Khoshnood MM, Santoro JD

American journal of medical genetics. Part A 2023; (191(12)):2868-2872 doi:10.1002/ajmg.a.63376.

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

Aburezq M, Alahmad A, Alsafi R, et al.

Orphanet journal of rare diseases 2023; (18(1)):271 doi:10.1186/s13023-023-02888-y.

An unusually mild case of biotin-thiamine-responsive basal ganglia disease.

Lail G, Blaser S, Inbar-Feigenberg M

Molecular genetics and metabolism reports 2023; (37()):101004 doi:10.1016/j.ymgmr.2023.101004.

Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.

Aldosari AN, Arisha A, Ibrahim A, Gongi M

Journal of epilepsy research 2023; (13(2)):59-62 doi:10.14581/jer.23010.

Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.

Norouzi Rostami F, Sadeghi H, Hashemi-Gorji F, et al.

Heliyon 2024; (10(6)):e27434 doi:10.1016/j.heliyon.2024.e27434.

Efficacy of high thiamine dosage in treating patients with biotin thiamine responsive basal ganglia disease: a two case reports.

Aldosari AN

The International journal of neuroscience 2025; (135(11)):1243-1247 doi:10.1080/00207454.2024.2352769.

An atypical presentation in a child with propionic acidemia? Better think twice!

Burkhardt T, Kastor KL, Christ S, et al.

JIMD reports 2025; (66(2)):e12464 doi:10.1002/jmd2.12464.

Wernicke's encephalopathy due to total parenteral nutrition after jejunotomy: a case report.

Zhu Z, He B, Jiang X, et al.

Annals of medicine and surgery (2012) 2025; (87(7)):4585-4590 doi:10.1097/MS9.0000000000003386.

Structural insights into substrate binding of SLC19A3: Comparing inward-open and outward-open conformations.

Zhang E, Xu X, Liu J, et al.

International journal of biological macromolecules 2025; (333(Pt 1)):148878 doi:10.1016/j.ijbiomac.2025.148878.

Case Report: Wernicke's encephalopathy induced by prolonged fasting due to apparent psychogenic dysphagia.

Mills L, Zou H, Alnounou A, et al.

Frontiers in behavioral neuroscience 2026; (20()):1780775 doi:10.3389/fnbeh.2026.1780775.