Biotinidase deficiency is a autosomal recessive metabolic disease where biotin isn't discharged from carbohydrates in the diet throughout digestion or by regular protein turnover in the cell. This scenario leads to biotin deficiency.

Biotin, also referred to as vitamin B7, is a significant water-soluble nutritional supplement that assists in the metabolism fats,  carbs, and proteins. Biotin deficiency may lead to behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can relieve and occasionally completely stop such ailments.



Signs and symptoms of Biotinidase Deficiency 

Symptoms and signs of a biotinidase deficiency may appear several days following 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 disease can quickly result in coma and death.

Biotinidase deficiency may also look later in life. This can be known as "late-onset" biotinidase deficiency. The signs are similar, but maybe more moderate, since if a person survives the neonatal period they probably have some residual action of biotin-related enzymes. Studies have noted people that were hospitalized before adolescence or early adulthood. What's more, in rare circumstances, even people with deep deficiencies of biotinidase could be curable.

Symptom severity is predictably correlated with the seriousness of the chemical defect. Profound biotinidase deficiency identifies scenarios where enzyme action is 10 percent or less. People with partial biotinidase deficiency might have receptor action of 10-30%.

Functionally, there isn't any substantial gap between dietary supplementation deficiency and genetic reduction of biotin-related enzyme action. In both situations, supplementation with biotin can often restore normal metabolic functioning and suitable catabolism of both leucine and isoleucine.

The symptoms of biotinidase deficiency (and dietary lack of vitamin) can be very severe. A 2004 case study from Metametrix comprehensive the effects of biotin deficiency, such as aggression, cognitive delay, and decreased immune function.

Treatment of Biotinidase Deficiency

Treatment is possible but unless continued daily, problems may arise. Currently, this is done through 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.



Source: https://aderonkebamidele.com/biotinidase-deficiency-signssymptoms-trea/