Biotinidase and Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)
Autozomálně recesivní
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.
Co se diagnózou změní
Knowing allows inexpensive lifelong biotin treatment, which can prevent the serious neurological and metabolic effects of profound deficiency.
Známé také jako
MCD
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- biotinidase deficiency
- holocarboxylase synthetase deficiency
