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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008872 | Feeding difficulties in infancy |
| HP:0002013 | Vomiting |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001581 | Recurrent skin infections |
| HP:0002240 | Hepatomegaly |
| HP:0011463 | Childhood onset |
| HP:0001744 | Splenomegaly |
| HP:0001051 | Seborrheic dermatitis |
| HP:0002789 | Tachypnea |
| HP:0002014 | Diarrhea |
