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ORPHA:79241

Biotinidase deficiency

medium confidenceDisorder

Also known as: Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Publications

1,613

86.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,175

Distinct authors in sample

Gene link

BTD

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by , breathing difficulties, , skin rash, alopecia, hearing loss and delayed development.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

BTD deficiency · biotinidase deficiency · juvenile-onset multiple carboxylase deficiency · late-onset multiple carboxylase deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — BTD

  2. LiteraturePresent

    1,613 matched papers (900 in last 10 years) Source

  3. Phenotype characterisedPresent

    64 HPO annotations (e.g. Hypotonia; Ataxia; Decreased circulating biotinidase concentration) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (BTD).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

64

Associated phenotypes · MONDO:0009665

  • Hypotonia
  • Ataxia
  • Decreased circulating biotinidase concentration
  • Vomiting
  • Global developmental delay

Showing 5 of 64 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009665

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,613

1,613 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,613 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

900 in the last 10 years · medium confidence · 86.9th percentile (publications denominator)

Phrase hits: 1,610 · MeSH hits: 22

Open Europe PMC search

Who's working on it?

1,175

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wolf B8 papers · 2025

    Ann and Robert H. Lurie Children's Hospital of Chicago and Northwestern Feinberg School of Medicine, Chicago, IL, United States of America.

    Papers in Europe PMC
  2. 02
    Eminoğlu FT4 papers · 2026

    Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara University Rare Diseases Application and Research Center, Ankara, Türkiye.

    Papers in Europe PMC
  3. 03
    Köse E4 papers · 2026

    Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara University Rare Diseases Application and Research Center, Ankara, Türkiye.

    Papers in Europe PMC
  4. 04
    Arumugam P3 papers · 2024

    Molecular Biology Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 600 077, TN, India. paramasivama.sdc@saveetha.com.

    Papers in Europe PMC
  5. 05
    Couce ML3 papers · 2025

    Unit for Diagnosis and Treatment of Congenital Metabolic Disorders, University Clinical Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.

    Papers in Europe PMC
  6. 06
    Gowda VK3 papers · 2025

    Department of Pediatric Neurology (V.K.G.), Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

    Papers in Europe PMC
  7. 07
    Jayaseelan VP3 papers · 2024

    Clinical Genetics Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 600 077, TN, India.

    Papers in Europe PMC
  8. 08
    Kannan B3 papers · 2024

    Molecular Biology Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 600 077, TN, India.

    Papers in Europe PMC
  9. 09
    Koç Yekedüz M3 papers · 2026

    Department of Pediatric Metabolism, Ankara University, Faculty of Medicine, Ankara, Türkiye.

    Papers in Europe PMC
  10. 10
    Navamani HK3 papers · 2024

    Department of Obstetrics and Gynecology, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha Medical College and Hospital, Saveetha University, Chennai, 602 105, TN, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Biotinidase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Biotinidase deficiency" OR "Juvenile-onset multiple carboxylase deficiency" OR "Late-onset multiple carboxylase deficiency" OR "BTD deficiency") OR (MESH:"Biotinidase Deficiency") OR ("BTD syndrome" OR "BTD-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Biotinidase Deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Biotinidase deficiency" OR "Juvenile-onset multiple carboxylase deficiency" OR "Late-onset multiple carboxylase deficiency" OR "BTD deficiency"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:07:16.215Z