Biotinidase Deficiency - Pathophysiology

Pathophysiology

Symptoms of the disease are caused by the inability to reuse biotins that are needed for cell growth, production of fatty acids and the metabolism of fats and amino acids. For the most part, there is no real progression. If left untreated, the symptoms can lead to later problems such as comas or death. The problems that are prevalent early in life remain prevalent in old age unless treatment is administered daily.

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