ArticleExpert review of endocrinology & metabolism2008
Biotin and biotinidase deficiency.
Article in Expert review of endocrinology & metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 189 citations in OpenAlex.
- Role of Vitamins in Skin Health: a Systematic Review.Current nutrition reports · 2020Pooled it
- Effect of probiotic administration during pregnancy on the functional diversity of the gut microbiota in healthy pregnant women.Microbiology spectrum · 2024Trial
- Liver-originated selective autophagy of BTD by alectinib underlies concurrent hepatotoxicity and dermatotoxicity.Autophagy · 2026Article
- The Dynamic Coenzyme Network of B Vitamins in Nutritional Neuropathy and Neuropsychiatric Vulnerability: A Mechanistic Narrative Review.Nutrients · 2026Review
- Region-specific brain structural modulation and amyloid-β pathology associated with dietary biotin: insights into dementia neuropathology.EBioMedicine · 2026Article
- Exploring the link between water-soluble vitamins and aging-associated immune system status.Frontiers in immunology · 2026Review
- Persistent gut microbiota dysbiosis and metabolic remodeling after ceftriaxone exposure in mice: a cross-study re-analysis.Frontiers in cellular and infection microbiology · 2026Article
- Maternal nutrition alters mRNA isoform expression, usage, and splicing dynamics in skeletal muscle of beef cattle offspring.Frontiers in genetics · 2026Article
- Scoping review of micronutrient imbalances, clinical manifestations, and interventions.World journal of methodology · 2025Review
- Integrated Transcriptomic Analysis of S100A8/A9 as a Key Biomarker and Therapeutic Target in Sepsis Pathogenesis and AI Drug Repurposing.International journal of molecular sciences · 2025Article
- Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- Biotin Supplementation-The Cause of Hypersensitivity and Significant Interference in Allergy Diagnostics.Nutrients · 2025Review
- Recent Advances on the Role of B Vitamins in Cancer Prevention and Progression.International journal of molecular sciences · 2025Review
- Article
- Vitamins and minerals and their role in cancer: a comprehensive review.Frontiers in nutrition · 2025Review
- Micronutrient status in children aged 6-59 months with severe wasting and/or nutritional edema: implications for nutritional rehabilitation formulations.Nutrition reviews · 2025Review
- A comprehensive approach for detection of biotin deficiency from dried blood spot samples using liquid chromatography-mass spectrometry.Future science OA · 2024Article
- The Importance of Biotinylation for the Suitability of Cationic and Neutral Fourth-Generation Polyamidoamine Dendrimers as Targeted Drug Carriers in the Therapy of Glioma and Liver Cancer.Molecules (Basel, Switzerland) · 2024Article
- Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.Molecular biology reports · 2024Article
- LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.Aging cell · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Biotin is a water-soluble vitamin that serves as an essential coenzyme for five carboxylases in mammals. Biotin-dependent carboxylases catalyze the fixation of bicarbonate in organic acids and play crucial roles in the metabolism of fatty acids, amino acids and glucose. Carboxylase activities decrease substantially in response to biotin deficiency. Biotin is also covalently attached to histones; biotinylated histones are enriched in repeat regions in the human genome and appear to play a role in transcriptional repression of genes and genome stability. Biotin deficiency may be caused by insufficient dietary uptake of biotin, drug-vitamin interactions and, perhaps, by increased biotin catabolism during pregnancy and in smokers. Biotin deficiency can also be precipitated by decreased activities of the following proteins that play critical roles in biotin homeostasis: the vitamin transporters sodium-dependent multivitamin transporter and monocarboxylate transporter 1, which mediate biotin transport in the intestine, liver and peripheral tissues, and renal reabsorption; holocarboxylase synthetase, which mediates the binding of biotin to carboxylases and histones; and biotinidase, which plays a central role in the intestinal absorption of biotin, the transport of biotin in plasma and the regulation of histone biotinylation. Symptoms of biotin deficiency include seizures, hypotonia, ataxia, dermatitis, hair loss, mental retardation, ketolactic acidosis, organic aciduria and also fetal malformations. This review focuses on the deficiencies of both biotin and biotinidase, and the medical management of such cases.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.