10 Serious Warning Signs Of A Biotinidase Deficiency

9. Immunodeficiency & Recurrent Infections

A startling, less obvious symptom of Biotinidase Deficiency is a compromised immune system, leading to recurrent and often severe infections. Biotin is vital for the proper function of lymphocytes, key cells in the immune response. Children with the deficiency may suffer from frequent bacterial or fungal infections, including chronic candidiasis (yeast infections) of the skin and mucous membranes. This weakened immune defense can lead to serious complications, emphasizing that unexplained recurrent infections, especially fungal, should prompt investigation for metabolic disorders like Biotinidase Deficiency.

10. Metabolic Acidosis

At a deeper metabolic level, Biotinidase Deficiency can lead to a condition called metabolic acidosis. Biotin acts as a coenzyme for several critical carboxylase enzymes involved in metabolism. When biotin is deficient, these enzymes malfunction, causing an accumulation of organic acids (like lactic acid) in the blood. This shift in the body's pH can be life-threatening if severe, impacting organ function. Though a laboratory finding, symptoms like vomiting, lethargy, or rapid breathing in an affected infant can be clinical signs, making prompt metabolic testing vital for diagnosis and intervention.