Biotinidase Deficiency: A Survey of 10 Cases
October 1988
in “
Archives of Disease in Childhood
”
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A study of 10 patients with biotinidase deficiency revealed varied clinical presentations, including dermatological signs like dermatitis and alopecia, neurological issues such as fits, hypotonia, and ataxia, and recurrent infections. The condition was biochemically marked by metabolic acidosis and organic aciduria. Treatment with biotin led to significant and rapid clinical and biochemical improvements. However, some patients experienced lasting neurological damage, including neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. The study noted that the cause of this permanent damage was unclear, and it was uncertain if early treatment could prevent it.
