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Biotinidase deficiency is an autosomal recessive ... One in 61,067 for the combined incidence of profound and partial biotinidase deficiency; Carrier frequency in the ...
Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. Biotinidase deficiency is an inherited disorder caused by mutations in the BTD gene. When biotinidase activity is deficient, biotin can be neither recycled within the body nor removed from ingested food.
Biotinidase deficiency is a deficiency of the enzyme that recycles biotin, the consequence of an inherited genetic mutation. [1] Biotinidase catalyzes the cleavage of biotin from biocytin and biotinyl-peptides (the proteolytic degradation products of each holocarboxylase) and thereby recycles biotin. [ 2 ]
Biotin deficiency is a relatively uncommon condition, ... Global estimates approximate that biotinidase deficiency ranges anywhere from one in 40,000 people to one in 60,000 people, per NCBI.
People with a biotinidase deficiency, a rare inherited disorder which prevents the body from releasing free biotin, says Suozzi. People with chronic exposure to alcohol or alcoholism.
Genetic mutation: Mikati et al. (2006) reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy. The boy presented with perinatal distress followed by developmental delay, hypotonia , seizures, and infantile spasms without alopecia or dermatitis .
Forms include: [citation needed] Holocarboxylase synthetase deficiency - neonatal;; Biotinidase deficiency - late onset;; If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in ...
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. [2] This disorder is classified as a multiple carboxylase deficiency , a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.