biotinidase deficiency
Findings
No curated finding names biotinidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Definition from the Mondo Disease Ontology (MONDO:0009665), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypotoniaHPOHP:0001252
- 27 of 31 reported patients
- Frequent (30% to 79% of cases)
- Organic aciduriaHPOHP:0001992
- 25 of 29 reported patients
- Very frequent (80% to 99% of cases)
- Metabolic ketoacidosisHPOHP:0005979
- 25 of 31 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating biotinidase concentrationHPOHP:0410145
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- 24 of 31 reported patients
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
Show the remaining 27
- AtaxiaHPOHP:0001251
- 18 of 31 reported patients
- Occasional (5% to 29% of cases)
- Optic atrophyHPOHP:0000648
- 17 of 31 reported patients
- Occasional (5% to 29% of cases)
- ConjunctivitisHPOHP:0000509
- 14 of 31 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
- ApneaHPOHP:0002104
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BTDHGNC:1122
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: biotinidase deficiency
- Also called
- BTD deficiencyjuvenile-onset multiple carboxylase deficiencylate-onset multiple carboxylase deficiency