Research & Literature

Regulation of immunological and inflammatory functions by biotin.

Kuroishi T

Canadian journal of physiology and pharmacology 2015; (93(12)):1091-6 doi:10.1139/cjpp-2014-0460.

Holocarboxylase synthetase deficiency pre and post newborn screening.

Donti TR, Blackburn PR, Atwal PS

Molecular genetics and metabolism reports 2016; (7()):40-4 doi:10.1016/j.ymgmr.2016.03.007.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, et al.

JIMD reports 2017; (33()):99-107 doi:10.1007/8904_2016_559.

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.

Quinonez SC, Seeley AH, Lam C, et al.

JIMD reports 2017; (34()):55-61 doi:10.1007/8904_2016_9.

Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization.

León-Del-Río A, Valadez-Graham V, Gravel RA

Annual review of nutrition 2017; (37()):207-223 doi:10.1146/annurev-nutr-042617-104653.

Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

Szymańska E, Średzińska M, Ługowska A, et al.

Molecular genetics and metabolism reports 2015; (5()):33-35 doi:10.1016/j.ymgmr.2015.09.004.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Larson AA, Balasubramaniam S, Christodoulou J, et al.

Mitochondrion 2019; (44()):58-64 doi:10.1016/j.mito.2018.01.001.

Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.

Xiong Z, Zhang G, Luo X, et al.

Medicine 2020; (99(18)):e19964 doi:10.1097/MD.0000000000019964.

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.

Zheng Z, Yuan G, Zheng M, et al.

BMC medical genetics 2020; (21(1)):155 doi:10.1186/s12881-020-01080-4.

Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review.

Wu HR, Chen KJ, Hsiao HP, Chao MC

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(11)):1481-1486.

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.

Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association , Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health , Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022; (51(1)):129-135 doi:10.3724/zdxbyxb-2022-0164.

Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.

Meguro M, Wada Y, Kisou Y, et al.

Molecular genetics and metabolism reports 2022; (33()):100923 doi:10.1016/j.ymgmr.2022.100923.

Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase deficiency.

Liu H, Wei R, Yang Y, et al.

The Journal of dermatology 2023; (50(3)):401-406 doi:10.1111/1346-8138.16625.

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.

Ling S, Qiu W, Zhang H, et al.

Orphanet journal of rare diseases 2023; (18(1)):48 doi:10.1186/s13023-023-02656-y.

Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.

Raspa M, Kutsa O, Andrews SM, et al.

European journal of human genetics : EJHG 2024; (32(4)):392-398 doi:10.1038/s41431-023-01345-5.

[Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study].

Li KY, Tang JP, Jiang YL, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(4)):401-407 doi:10.7499/j.issn.1008-8830.2211062.

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.

van den Heuvel LM, Kater-Kuipers A, van Dijk T, et al.

Orphanet journal of rare diseases 2023; (18(1)):134 doi:10.1186/s13023-023-02735-0.

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Demaret T, Joyal JS, Karalis A, et al.

Molecular genetics and metabolism reports 2024; (39()):101073 doi:10.1016/j.ymgmr.2024.101073.

Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency.

Nelson AT, Jones PM, Cao J

Clinica chimica acta; international journal of clinical chemistry 2024; (560()):119747 doi:10.1016/j.cca.2024.119747.

Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.

Kim SW, Lee HJ, Choi N, et al.

Molecular genetics & genomic medicine 2024; (12(8)):e70002 doi:10.1002/mgg3.70002.

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.

Gaschignard M, Domenach L, Lamireau D, et al.

Frontiers in genetics 2024; (15()):1249480 doi:10.3389/fgene.2024.1249480.

Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.

Ting SL, Yakob Y, Sani HA, et al.

JIMD reports 2025; (66(2)):e70006 doi:10.1002/jmd2.70006.

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.

Aukes R, Albersen M, Boelen A, et al.

Journal of inherited metabolic disease 2025; (48(5)):e70088 doi:10.1002/jimd.70088.

Holocarboxylase synthetase deficiency: pathogenesis, clinical features, diagnosis, treatment, and research prospects.

ZeZhao J, Ablimit A

European journal of pediatrics 2026; (185(7)).

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Abacan MAR, Baltazar-Braganza KR, Cabaluna ITG, et al.

Acta medica Philippina 2026; (60(10)):28-41 doi:10.47895/amp.v60i10.10675.

Parental experience and information needs following a positive newborn screening test-based neonatal diagnosis of a chronic condition: an integrative review.

Luck P, -Schmid JP, Naef R, et al.

International journal of nursing studies advances 2026; (11()):100646 doi:10.1016/j.ijnsa.2026.100646.