Biotinidase Enzyme Deficiency: Case Report
March 2023
in “
Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb
”
TLDR A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
A rare case of biotin deficiency was reported in a family from Wasit Province, involving seven children, three of whom died before diagnosis. Symptoms included ataxia, hypotonia, developmental delay, conjunctivitis, skin rash, dermatitis, alopecia, hearing difficulty, breathing problems, and recurrent chest infections. Diagnosis was confirmed through a therapeutic trial with vitamin replacement and a biotinidase enzyme assay conducted in France. The surviving children are now doing well on lifelong treatment with activated biotin.
