Biotinidase and Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)
Autosomal recessive
Caused by variants in BTD or HLCS, these conditions can lead to seizures, skin rash, hair loss, hearing and vision loss and metabolic crises if untreated; some BTD variants cause only partial enzyme deficiency, which is usually mild.
What a diagnosis changes
Knowing allows inexpensive lifelong biotin treatment, which can prevent the serious neurological and metabolic effects of profound deficiency.
Also known as
MCD
Includes 2 related subtypes ↓Hide subtypes ↑
- biotinidase deficiency
- holocarboxylase synthetase deficiency
