Biotinidase deficiency

Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from
proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in
biotin deficiency.
Symptoms and signs
Signs and symptoms of a biotinidase deficiency can appear several days after birth. These include
seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes
(including seborrheic dermatitis and psoriasis), and alopecia. If left untreated, the disorder can rapidly
lead to coma and death.[citation needed]

Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase
deficiency. The symptoms are similar, but perhaps more mild, because if an individual survives the
neonatal period they likely have some residual activity of biotin-related enzymes. Studies have noted
individuals who were asymptomatic until adolescence or early adulthood. One study pointed out that
untreated individuals may not show symptoms until age 21. Furthermore, in rare cases, even individuals
with profound deficiencies of biotinidase can be asymptomatic.
Genetics
Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the
BTD gene
Diagnosis
Biotinidase deficiency can be found by genetic testing. This is often done at birth as part of newborn
screening in several states throughout the United States. Results are found through testing a small
amount of blood gathered through a heel prick of the infant. As not all states require that this test be done,
it is often skipped in those where such testing is not required. Biotinidase deficiency can also be found
by sequencing the BTD gene, particularly in those with a family history or known familial gene mutation
Treatment
supplementation of 5–10 mg of oral biotin a day. If symptoms have begun to show, standard treatments
can take care of them, such as hearing aids for poor hearing