Biotinidase screening at a tertiary children’s hospital

What is it about?

Some evidence-based protocols recommend that biotinidase activities (BTA) should be measured early in the clinical pathway for moderate or severe delay. We aimed to compare the rate and results of screening for biotinidase deficiency (BTD) before and after the introduction of the guideline. We retrospectively analysed all patients who were tested for biotinidase deficiency in a large tertiary children’s hospital over a period of 2 years before and 2 years after the implementation of the guideline.

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Why is it important?

150 tests of BTA were requested in 138 patients aged 1 month to 17 years 7mo (median 2 years 3 mo). A total of 10 (6.7%) abnormal results from 8 patients diagnosed with partial BTD were found, corresponding to an annual incidence of 0.357 (0.18 to 0.54) per 1000 live births. This is about 45 times higher than the estimated incidence of 0.008 (0.006 to 0.009) per 1000 live births in the developed countries. The commonest symptoms of patients diagnosed with partial BTD were either neuro-developmental delay (87.5%) or neurological abnormalities (75%), complex epilepsy or seizure disorders (62.5%), learning difficulties (37.5%) and hearing loss (25%).

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