Question Of The Day - Pediatric Oncall
Question of the Day
Question :
Q. i am doing newborn screening. i often come across biotinidase deficiency. i want to nknow wether all such babiies i should put on biotin 1omg od, or should i repeat the newborn screen test to verify once again. i know the logical step is to do serum biotinidase level in the serum but it is very costly. also if we do deciide to put the child on biotin how long should we continue it.until what age san we repeat the screening test

Answer and Join Discussion  
Answer Discussion :
drahmed fawzy
If clinically approving the enzyme def start ttt. Ttt may continue for life i think
8 hours ago
Silver Yeibake
Before treatment is commenced. The dosage will be determined by the patients` clinical response.
15 hours ago
Silver Yeibake
Depending on the severity, treatment may be lifelong.
Ideally,a pediatric neurologist, metabolic disorder specialist, and geneticist should assist in the patient’s workup and evaluation.

15 hours ago
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