A 3 month old male child was brought to the hospital with complaints of skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and mild acidosis. The child was subjected to a simple metabolic screening protocol. The result of the screening and the clinical symptoms provided an index pointing towards biotinidase deficiency, a rare autosomal recessive, inherited metabolic disorder. The enzyme was then assayed by using n-biotinyl paminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy of biotin supplementation in biotinidase deficiency.
KEY WORDSBiotin, biotinidase, n-biotinyl para aminobenzoate, alopecia.
In a pilot study with five oral cancer patients undergoing radiotherapy (RT) three were given Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) as a protective agent to reduce the mucosal inflammation during radiotherapy. The myeloperoxidase (MPO) enzyme activity in WBC was quantitated. The three patients showed a significant increase in the MPO activity when compared with two untreated controls indicating the efficacy of GM-CSF as a protective agent, it is suggested that further detailed studies with larger number of patients would be useful.
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