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Master thesis

Déficit en cobalamine C: à propos d un cas à révélation précoce

Abstract : The cobalamin C defect is an inborn error of the vitamin B12 metabolism, affecting its intracellular use. As a result there is an accumulation of two toxic metabolites : homocystein and methylmalonic acid. Two clinical forms of this disease can be observed depending on the age at which the first symptoms appear : those forms which appear early and whose prognostic is severe and thosewhich appear later (after the age of four) whose evolution is more favourable.The seriousness of the early-onset forms is essentially due to the gravity of the neurological (leucodystrophies) and ophthalmic (pigmentary retinitis) signs.ïherapy is based principally on the intramuscuiar administration of hydroxycobalamin.rhis is an autosomal recessive disease of which there are an estimated one hundred cases which appear later (after the age of four) whose evolution is more favourable. The seriousness of the early-onset forms is essentially due to the gravity of the neurological (leucodystrophies) and ophthalmic (pigmentary retinitis) signs. Therapy is based principally on the intramuscular administration of hydroxycobalarnin. This is an autosomal recessive disease of which there are an estimated one hundred cases worldwide. In this thesis, we shall report the case of a currently six years old child with the early-onset form of the disease, we compared this case to a review of the relevant literature.
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https://hal.univ-lorraine.fr/hal-01732263
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  • HAL Id : hal-01732263, version 1

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Marc Fleuriau. Déficit en cobalamine C: à propos d un cas à révélation précoce. Sciences du Vivant [q-bio]. 2006. ⟨hal-01732263⟩

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