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biotinidase deficiency
Summary
- Synonym
-
- BTD deficiency
- Juvenile-onset multiple carboxylase deficiency
- Late-onset multiple carboxylase deficiency
- deficiency of biotinidase
- Definition
- A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
- Super Class
- autosomal recessive disease multiple carboxylase deficiency
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P43251 | Biotinidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8CIF4 | Biotinidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0000964 | Eczematoid dermatitis |
| HP:0002196 | Myelopathy |
| HP:0000509 | Conjunctivitis |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001250 | Seizure |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001987 | Hyperammonemia |
| HP:0001138 | Optic neuropathy |
| HP:0002104 | Apnea |
