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Article

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

The Journal of clinical investigation - 1 Jun 1994

Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouzé P, Munnich A, Rötig A, Landrieu P, Rustin P

Abstract excerpt

We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents. They presented with progressive encephalopathy, dystonia, leucopenia, and neutropenia. Elevation of lactate in the cerebrospinal fluid and high fumarate excretion in the urine led us to investigate the activities of the respiratory chain and of the Krebs cycle, and to finally identify...

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Identifiers

PMID: 8200987
DOI: 10.1172/JCI117261
PMCID: PMC294471

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