The Biotinidase deficiency affects about one out of
55 000 newborns.
This disorder causes various types of damage, which may be extremely severe, and can even result in the infant’s death. The enzyme biotinidase normally extracts biotin from food during digestion, making it available to the organism in its free form. In cases of biotinidase deficiency, the vitamin is lost. However, biotin is vital for various metabolic enzymes. Here too, early diagnosis and immediate therapy can prevent damage.
Treatment of biotinidase deficiency is simple, involving the daily intake of one biotin tablet.
The disorder is roughly as common as galactosaemia.
Easily and effectively treatable by giving biotin.
Acute symptoms can be made to completely disappear – provided there is no irreversible neurological damage – through the intake of pharmacological.
Long-term care should be given in collaboration with a clinic that is experienced in this area and can carry out the regularly needed tests and laboratory controls.