First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children


We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel… (More)
DOI: 10.1016/j.ymgmr.2015.01.005


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