Leigh's disease due to a new mutation in the PDHX gene.
OBJECTIVE
To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases.


METHODS
Brain magnetic resonance imaging (MRI), basal metabolic investigations with lactate measurements in body fluids, PDHc activity assay on cultured skin fibroblasts, immunoblot analysis and molecular studies (polymerase chain reaction [PCR] and sequencing procedures).


RESULTS
Our patient accused an unspecific encephalopathy for years and presented at 13 years of age an acute deterioration with basal ganglia necrosis and subcortical white matter involvement. PDHc deficiency was secondary to a large deletion (3913 bp) in the PDHX gene, which encodes E3 binding protein (E3BP) subunit.


CONCLUSIONS
These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene.
Schiff
Manuel
M
Service de Neuropédiatrie et Maladies métaboliques, Hôpital Robert Debré, Paris, France. manuel.schiff@rdb.aphp.fr
Miné
Manuele
M
Brivet
Michèle
M
Marsac
Cécile
C
Elmaleh-Bergés
Monique
M
Evrard
Philippe
P
Ogier de Baulny
Hélène
H
D000293:Adolescent; D015153:Blotting, Western / Q000379:methods; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012196:Review Literature as Topic
C045867:PDHX protein, human; D011768:Pyruvate Dehydrogenase Complex; D012333:RNA, Messenger