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Neuropediatrics 1986; 17(3): 129-131
DOI: 10.1055/s-2008-1052513
DOI: 10.1055/s-2008-1052513
Neurological Deterioration and Lactic Acidemia in Biotinidase Deficiency
A Treatable Condition Mimicking Leigh's Disease * Presented address, Genetics Department, Hôpital Ste Justine, 3175 Chemin de la Cotes Ste Catherine, Montréal, Québec, Canada H3T1C5Further Information
Publication History
Publication Date:
19 March 2008 (online)
Abstract
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.
Key words
Biotinidase - Multiple carboxylase deficiency - Leigh's disease - Lactic acidosis - Metabolic disease