biotinidase deficiency

Symptoms of a biotinidase deficiency can appear several days after birth.

There are at least 21 different mutations that have been found to lead to biotinidase deficiency.

Individuals with partial biotinidase deficiency may have enzyme activity of 10-30%.

Biotinidase deficiency can also appear later in life.

Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less.

Symptoms are very similar to biotinidase deficiency and treatment - large doses of biotin - is also the same.

Biotinidase deficiency can be found by genetic testing.

Patients with biotinidase deficiency have been reported.

Enzyme assays are used to screen for galactosemia and biotinidase deficiency.

This is referred to as "late-onset" biotinidase deficiency.

The genetic traits associated with biotinidase deficiency are transmitted in an autosomal recessive manner.

Biotinidase deficiency is not due to inadequate biotin, but rather to a deficiency in the enzymes that process it.

Mutations in the BTD gene cause biotinidase deficiency.

Biotinidase deficiency is an inherited disorder caused by mutations in the BTD gene.

Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered.

Based on the results of worldwide screening of biotinidase deficiency in 1991, the incidence of the disorder is:

The symptoms of biotinidase deficiency (and dietary deficiency of biotin) can be quite severe.

Biotinidase deficiency, a deficiency of the enzyme that affects normal recycling of biotin (one of the B vitamins).

Biotinidase deficiency can also be found by sequencing the BTD gene, particularly in those with a family history or known familial gene mutatio.

In its fulminant form and more often in children, biotinidase deficiency is characterized skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and acidosis.

Because biocytin is the natural substrate of the enzyme biotinidase, biocytin can be used to measure the biotinidase activity and therefore diagnose biotinidase deficiency.

Approximately 1 in 60,000 newborns are affected by profound (less than 10 percent of normal enzyme activity) or partial (10-30 percent of normal enzyme activity) biotinidase deficiency.

Biotinidase deficiency, Holocarboxylase synthetase deficiency, and Multiple carboxylase deficiency, in which biotin is required in very high amounts to correct underlying genetic problems with biotin-related enzymes.

If both parents are carriers for the biotinidase deficiency, there is a 25% chance that their child will be born with it and a 75% chance that they will be carriers.

Almost all individuals with partial biotinidase deficiency (10-30% enzyme activity) have the mutation p.Asp444His in one allele of the BTD gene in combination with a second allele.