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Neuropediatrics 1986; 17(3): 129-131
DOI: 10.1055/s-2008-1052513
© Georg Thieme Verlag KG Stuttgart · New York

Neurological Deterioration and Lactic Acidemia in Biotinidase Deficiency

A Treatable Condition Mimicking Leigh's DiseaseG.  Mitchell*1 , H.  Ogier1 , A.  Munnich1 , J. M. Saudubray1 , J.  Shirrer2 , C.  Charpentier3 , F.  Rocchiccioli3
  • 1INSERM U12 (Medical Genetics), Hôpital des Enfants Malades, 149 rue de Sèvres, F-75743 Paris Cedex 15, France
  • 2Centre Hospitalier Régional, Besançon, France
  • 3INSERM U753 (Enzymology), CHU Necker-Enfants Malades, Paris
* Presented address, Genetics Department, Hôpital Ste Justine, 3175 Chemin de la Cotes Ste Catherine, Montréal, Québec, Canada H3T1C5
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Publikationsdatum:
19. März 2008 (online)

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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