Biotinidase Deficiency Differential Diagnoses

Updated: Jul 27, 2018
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

Consider sepsis, meningitis, or toxic exposure in a child who presents with intractable seizures or severe metabolic disruption.

If serum laboratory testing indicates hyperammonemia and/or lactic acidosis, other inborn errors of metabolism should be considered.

Symptoms of biotinidase deficiency in neonates may make it difficult to differentiate holocarboxylase synthetase deficiency from biotinidase deficiency (see Pathophysiology), as patients with holocarboxylase synthetase deficiency also respond clinically well to biotin treatment.