Phenotypic Variation in Biotinidase Deficiency
August 1983
in “
The journal of pediatrics/The Journal of pediatrics
”
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Studysummary In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
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The document from August 1, 1983, reviews a study on biotinidase deficiency in six patients, highlighting the condition's phenotypic variability, which includes symptoms like metabolic ketoacidosis, organic aciduria, seizures, ataxia, skin rash, and alopecia. It suggests that biotinidase deficiency should be considered in patients with neurologic or cutaneous symptoms, even in the absence of ketoacidosis or organic aciduria, and that a therapeutic trial of biotin should be administered. The study also discusses the potential role of dietary biotin, absorption, intestinal flora, and biocytin in the variability of the condition. Symptoms were found to improve with pharmacologic doses of biotin, and the diagnosis can be confirmed by measuring serum biotinidase activity. The paper recommends considering biotinidase deficiency in relevant cases and confirms it is a treatable cause of infantile seizures.
