Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins.

Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures.

[citation needed] Neonates with BTD may not exhibit any signs, and symptoms typically appear after the first few weeks or months of life.

BTD may result in developmental delays, vision or hearing problems, eye infections, alopecia, and eczema.

Other symptoms that infants may exhibit include ataxia, breathing issues, lethargy, hepatomegaly, splenomegaly, and speech problems.

The symptoms are similar, but perhaps more mild, because if an individual survives the neonatal period they likely have some residual activity of biotin-related enzymes.

[3] Functionally, there is no significant difference between dietary biotin deficiency and genetic loss of biotin-related enzyme activity.

In both cases, supplementation with biotin can often restore normal metabolic function and proper catabolism of leucine and isoleucine.

A 2004 case study from Metametrix[5] detailed the effects of biotin deficiency, including aggression, cognitive delay, and reduced immune function.

When biotin is lacking, specific enzymes called carboxylases cannot process certain proteins, fats, or carbohydrates.

[citation needed] Individuals lacking functional biotinidase enzymes can still have normal carboxylase activity if they ingest adequate amounts of biotin.

Results are found through testing a small amount of blood gathered through a heel prick of the infant.