Biotinidase Deficiency is an autosomal, recessive metabolic disorder which results in biotin deficiency. This condition occurs due to improper digestion where biotin is not released from proteins present in the diet or from normal protein turnover of a cell. If this condition is not treated, it leads to coma and death ultimately. Symptoms of this deficiency are: • Seizures • Hypotonia • Limb and muscle weakness • Hearing loss • Optic atrophy • Skin rashes • Ataxia
HOW IS BIOTINIDASE DEFICIENCY DIAGNOSED?
Diagnosis of Biotinidase deficiency may be done through genetic testing. Pediatricians do this as part of newborn screening by drawing blood sample from a heel prick of the infant. It can be diagnosed by sequencing the BTD gene or known familial gene mutation.
HOW IS BIOTINIDASE DEFICIENCY TREATED?
This disease requires medication that needs to be continued on a daily basis. Commonly followed treatment is oral administration of biotin. However, if symptoms begin to show up, specific treatment for the symptoms needs to be given.
DID YOU KNOW?
Biotin is an important water soluble nutrient that facilitates metabolism of carbohydrates, fats and proteins.