Pyridoxine-dependent epilepsy
Encyclopedia
Pyridoxine-dependent epilepsy (PDE, EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare disorder characterised by intractable seizure
s in newborn children that require lifelong B6
supplementation to treat. The disorder was first recognized in the 1950, with the first description provided by Hunt et al. in 1954. The most likely cause is a mutation
in ALDH7A1
(antiquitin) gene
.
Seizure
An epileptic seizure, occasionally referred to as a fit, is defined as a transient symptom of "abnormal excessive or synchronous neuronal activity in the brain". The outward effect can be as dramatic as a wild thrashing movement or as mild as a brief loss of awareness...
s in newborn children that require lifelong B6
Vitamin B6
Vitamin B6 is a water-soluble vitamin and is part of the vitamin B complex group. Several forms of the vitamin are known, but pyridoxal phosphate is the active form and is a cofactor in many reactions of amino acid metabolism, including transamination, deamination, and decarboxylation...
supplementation to treat. The disorder was first recognized in the 1950, with the first description provided by Hunt et al. in 1954. The most likely cause is a mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
in ALDH7A1
ALDH7A1
Aldehyde dehydrogenase 7 family, member A1 also known as ALDH7A1 or antiquitin is an enzyme that in humans is encoded by the ALDH7A1 gene.-Function:...
(antiquitin) gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.