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Lethal outcome of 5-fluorouracil infusion in a patient with a total DPD deficiency and a double DPYD and UTG1A1 gene mutation

✍ Scribed by Hélène Mounier-Boutoille; Michèle Boisdron-Celle; Estelle Cauchin; Jean-Paul Galmiche; Alain Morel; Erick Gamelin; Tamara Matysiak-Budnik


Book ID
108642531
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
462 KB
Volume
70
Category
Article
ISSN
0306-5251

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Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from