Question of the Week

Question :
Posted On : 27 Apr 2017
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
Expert Answer :
The purpose of newborn screening is to identify the babies who otherwise would have shown symptoms later detrimental to their development or survival. It is like TSH is elevated - do we treat them with Thyroxine for life long assuming that they have congenital hypothyroidism_? No = similarly you can`t assume and treat them - just because Biotin is cheaper - you need to confirm the diagnosis - this is what Kills the Newborn screening programme!
Answer Discussion :
aberor stephen
1hour and at the 1 week
4 years ago
khalid mansy
we should start treatement as disease is suspected even not documented until confirmed or ruled out
4 years ago
Dr. Paul R K
Please start biotin and repeat level at 3 months or as possible after 3 days of absteinence.
biotin supplementation wont harm wheras withholding it in positive report may raise medico legal concern.
hope this helps.
-Dr R.K.Paul,MD {Ped}

4 years ago
drahmed fawzy
If clinically approving the enzyme def start ttt. Ttt may continue for life i think
4 years ago
Silver Yeibake
Before treatment is commenced. The dosage will be determined by the patients` clinical response.
4 years ago

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