Research & Literature

Mutations in BTD gene causing biotinidase deficiency: a regional report.

Kasapkara ÇS, Akar M, Özbek MN, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2015; (28(3-4)):421-4.

Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.

Wolf B

Molecular genetics and metabolism 2015; (116(3)):113-8.

Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.

Talebi H, Yaghini O

Journal of audiology & otology 2016; (20(1)):53-4 doi:10.7874/jao.2016.20.1.53.

Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

Wolf B

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(4)):396-402 doi:10.1038/gim.2016.135.

Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.

Işeri-Erten SÖ, Dikmen ZG, Ulusu NN

Journal of medical biochemistry 2016; (35(2)):123-129 doi:10.1515/jomb-2016-0004.

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Porta F, Pagliardini V, Celestino I, et al.

Molecular genetics and metabolism reports 2017; (13()):80-82 doi:10.1016/j.ymgmr.2017.08.005.

"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.

Wolf B

Neurology. Clinical practice 2017; (7(6)):518-522 doi:10.1212/CPJ.0000000000000379.

Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.

Wolf B

Multiple sclerosis and related disorders 2019; (28()):26-30 doi:10.1016/j.msard.2018.11.030.

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.

Van Iseghem V, Sprengers M, De Zaeytijd J, et al.

Multiple sclerosis and related disorders 2019; (32()):64-65 doi:10.1016/j.msard.2019.04.025.

Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays.

Paketçi A, Köse E, Gürsoy Çalan Ö, et al.

Hormone research in paediatrics 2019; (92(2)):92-98 doi:10.1159/000502740.

Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.

Carvalho NO, Januário JN, Felix GLP, et al.

Journal of medical screening 2020; (27(3)):115-120 doi:10.1177/0969141319892298.

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Kellom ER, Wolf B, Rice GM, Stepien KE

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2021; (41(1)):e27-e30 doi:10.1097/WNO.0000000000000933.

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.

Mardhiah M, Azize NAA, Yakob Y, et al.

Molecular genetics and metabolism reports 2020; (22()):100548 doi:10.1016/j.ymgmr.2019.100548.

Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

Canda E, Kalkan Uçar S, Çoker M

Pediatric health, medicine and therapeutics 2020; (11()):127-133 doi:10.2147/PHMT.S198656.

Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.

Bilge N, Yevgi R

Multiple sclerosis and related disorders 2020; (44()):102280 doi:10.1016/j.msard.2020.102280.

Biotinidase deficiency characterized by skin and hair findings.

Yang Y, Yang JY, Chen XJ

Clinics in dermatology 2020; (38(4)):477-483 doi:10.1016/j.clindermatol.2020.03.004.

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.

Radelfahr F, Riedhammer KM, Keidel LF, et al.

Neurology. Genetics 2020; (6(6)):e525 doi:10.1212/NXG.0000000000000525.

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

Van Winckel G, Ballhausen D, Wolf B, et al.

Frontiers in neurology 2020; (11()):516799 doi:10.3389/fneur.2020.516799.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.

Geng J, Sun Y, Zhao Y, et al.

Molecular genetics & genomic medicine 2021; (9(2)):e1591 doi:10.1002/mgg3.1591.

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.

Cicalini I, Pieragostino D, Rizzo C, et al.

International journal of environmental research and public health 2021; (18(4)) doi:10.3390/ijerph18041659.

Brain MRI findings in an infant with congenital biotinidase deficiency.

Singh P, Gurnani R, Rawat A, Parihar A

BMJ case reports 2021; (14(10)) doi:10.1136/bcr-2021-246167.

Recovery of enzyme activity in biotinidase deficient individuals during early childhood.

Forny P, Wicht A, Rüfenacht V, et al.

Journal of inherited metabolic disease 2022; (45(3)):605-620 doi:10.1002/jimd.12490.

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.

Naseer MI, Pushparaj PN, Abdulkareem AA, Muthaffar OY

Frontiers in pediatrics 2021; (9()):829251 doi:10.3389/fped.2021.829251.

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.

Kannan B, Navamani HK, Jayaseelan VP, Arumugam P

Journal of pediatric genetics 2023; (12(1)):1-15 doi:10.1055/s-0042-1757887.

Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.

Erdol S, Kocak TA, Bilgin H

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(6)):555-560 doi:10.1515/jpem-2023-0003.

Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.

Karachaliou CE, Livaniou E

International journal of molecular sciences 2024; (25(12)) doi:10.3390/ijms25126578.

Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder.

Ali F, Mukhtiar K, Raza M, Ibrahim S

BMJ case reports 2024; (17(7)) doi:10.1136/bcr-2023-258703.

Molecular Mechanisms of Biotin in Modulating Inflammatory Diseases.

Sakurai-Yageta M, Suzuki Y

Nutrients 2024; (16(15)) doi:10.3390/nu16152444.

A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.

Yaralı O, Arslan S, Gündoğdu Öğütlü ÖB, et al.

Scandinavian journal of clinical and laboratory investigation 2024; (84(7-8)):470-476 doi:10.1080/00365513.2024.2420320.

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.

Zioudi A, Benrhouma H, Jamoussi M, et al.

Case reports in neurological medicine 2025; (2025()):7003370 doi:10.1155/crnm/7003370.

Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.

Cao AA, Brown MM, Lee MS, et al.

Neuro-ophthalmology (Aeolus Press) 2025; (49(3)):224-231 doi:10.1080/01658107.2024.2424209.