ReviewPediatric health, medicine and therapeutics2020
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Review in Pediatric health, medicine and therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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Who cites it
28 citing papers in PubMed.
- Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report.Life (Basel, Switzerland) · 2026Article
- Liver-originated selective autophagy of BTD by alectinib underlies concurrent hepatotoxicity and dermatotoxicity.Autophagy · 2026Article
- Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.International journal of molecular sciences · 2026Article
- Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review.Clinical case reports · 2026Article
- Article
- Alpha-Lipoic Acid and Biotin in Neurodegenerative Diseases: Convergent Mechanistic Insights from Preclinical Models to Clinical Perspectives.Neurology international · 2026Review
- NOD-m: a novel clinical score for predicting hearing loss in inherited metabolic disorders.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Article
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- Article
- Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.BMC pediatrics · 2025Article
- Comparison of vitamin B levels in febrile children with and without febrile seizures: A prospective single-center study.Medicine · 2025Observational
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- The lived experience of migrant Syrian mothers' interaction with the neonatal screening program.BMC public health · 2025Article
- Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.Case reports in neurological medicine · 2025Article
- Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency.Movement disorders clinical practice · 2024Article
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.International journal of molecular sciences · 2024Review
- Identification of Novel and Recurrent Variants inJournal of clinical medicine · 2024Article
- Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.Frontiers in genetics · 2024Article
- Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, developmental delay, hearing loss, optic atrophy ataxia, alopecia, and skin rash. Clinical findings of patients with partial BD reported in the literature show that it can occur from infancy to adulthood. Outcomes of newborn screening programs support the fact that biotin treatment started after birth prevents patients with biotinidase deficiency from developing symptoms. Presence of late-onset cases with different clinical findings indicates that there is still much to learn about BD.
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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.