Biotinidase Enzyme Deficiency ( Case Report )

Abstract

Biotin deficiency is very rare in the world .We had reported a case of biotin deficiency "for the first time in our country" in a family from Wasit Province / Hay District. This family includes seven children, unfortunately three of them died before the diagnosis of this disease, they are presented with ataxia, hypotonia, developmental delay, conjunctivitis, skin rash, dermatitis , alopecia, hearing difficulty , breathing problems and recurrent chest infections. The disease was proved after therapeutic trial with vitamin replacement and through biotinidase enzyme assay "which is the most effective enzyme by which the body's cells can using the biotin effectively". This test was done by sending blood samples to one of the medical laboratories in France. Now the children were doing very well on lifelong treatment with activated biotin .