Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
A six-month-old girl with chronic lactic acidosis and neurological deterioration is described, who underwent a sudden severe decompensation during her initial neurological investigations. She responded dramatically to biotin therapy. The diagnosis of late onset multiple carboxylase deficiency due to biotinidase deficiency was confirmed. This entity should be considered in the differential diagnosis of hyperlactacidemic encephalopathies.
D000140:Acidosis, Lactic / Q000175:diagnosis*; D000581:Amidohydrolases / Q000172:deficiency; D043523:Biotinidase; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis*; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis* / Q000628:therapy; D009422:Nervous System Diseases / Q000175:diagnosis*; D013577:Syndrome
D000581:Amidohydrolases; D043523:Biotinidase