" /> Epilepsy, early-onset, 4, vitamin b6-dependent - CISMeF





Preferred Label : Epilepsy, early-onset, 4, vitamin b6-dependent;

Symbol : EPEO4;

CISMeF acronym : EPD; PDE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyridoxine-dependent epilepsy; PDE; Aasa dehydrogenase deficiency; Pyridoxine dependency with seizures; Epilepsy, pyridoxine-dependent; EPD;

Description : Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 7 family, member A1 gene (ALDH7A1, 107323.0001);

Laboratory abnormalities : Increased serum and cerebrospinal fluid levels of pipecolic acid; Increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde;

Prefixed ID : #266100;

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27/07/2025


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