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?
Biotinidase Deficiency can be diagnosed by a paediatrician through genetic testing.
HOW IS BIOTINIDASE DEFICIENCY TREATED?
Biotinidase deficiency is treated by increasing vitamins in diet along with heavy doses of vitamin supplements. Treatment should begin as soon as the diagnosis is made. The patient may have to take Biotin for an entire lifetime. Genetic counseling is recommended for families of a child with multiple carboxylase deficiency.
DID YOU KNOW?
Positive newborn screens are commonly witnessed in babies who spend time in the NICU than in healthy term infants.