Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Biotinidase Deficiency — Research Summary
Printed from RareWays (rareways.org) on 26 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Early Clinical Features of Late-Onset Profound Biotinidase Deficiency in 2 Adult Siblings
Jeffrey T. Ehmsen et al. — Neurology Open Access (24 September 2026)
https://doi.org/10.1212/wn9.0000000000000179
- 2.
Current management of biotinidase deficiency following newborn screening in Italy: evidence from a clinical nationwide survey.
Tagliaferri Francesco et al. — Molecular genetics and metabolism (15 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42759219/
- 3.
When the mimic meets reality: AQP4-IgG seroconversion in a patient with profound biotinidase deficiency presenting with an NMOSD- like phenotype
Yavuz Ataş et al. — Neurology Asia (1 September 2026)
https://doi.org/10.54029/2026kre
- 4.
A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.
Sharma Rama et al. — Genetic testing and molecular biomarkers (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42467835/
- 5.
Biotinidase Activity Inhibition as a Biomarker of Effect to Mercury: Evidence from Amazonian Riverside Populations, In Vitro Assays, and In Silico Analyses.
do Nascimento José Luiz Martins et al. — ACS omega (23 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42368105/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
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Biotinidase Deficiency
Biotinidase deficiency is an inherited condition in which the body cannot recycle biotin, a B vitamin needed to break down proteins, fats and carbohydrates. Without enough free biotin, children can develop seizures, floppy muscles, hearing and vision loss, skin rashes and hair loss. It is picked up on newborn screening in Australia, and daily biotin taken by mouth prevents or reduces symptoms when started early.
Most Recent Research
Common Questions
What is Biotinidase Deficiency?
Biotinidase deficiency is an inherited condition in which the body cannot recycle biotin, a B vitamin needed to break down proteins, fats and carbohydrates. Without enough free biotin, children can develop seizures, floppy muscles, hearing and vision loss, skin rashes and hair loss. It is picked up on newborn screening in Australia, and daily biotin taken by mouth prevents or reduces symptoms when started early.
How many clinical trials are available for Biotinidase Deficiency?
RareWays currently indexes 2 clinical trials for Biotinidase Deficiency. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Biotinidase Deficiency come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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