KEGG   DISEASE: H01247Help
Entry
H01247                      Disease                                

Name
Pyridoxine-dependent epilepsy (PDE)
Description
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance to conventional antiepileptic treatment. Antiquitin (ATQ) deficiency is the main cause of PDE. Antiquitin is encoded by ALDH7A1 gene, and functions in the lysine degradation pathway. Its deficiency results in accumulation of alpha-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF.
Category
Nervous system disease; Epilepsy
BRITE hierarchy
Pathway
Lysine degradation
Gene
ALDH7A1 [HSA:501] [KO:K14085]
Marker
Alpha-aminoadipic semialdehyde [CPD:C04076]
Piperideine-6-carboxylate [CPD:C00450]
Pipecolic acid [CPD:C00408]
Drug
Pyridoxine hydrochloride [DR:D02179]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT
  Title
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
  Journal
Nat Med 12:307-9 (2006)
Reference
  Authors
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
  Title
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
  Journal
Mol Genet Metab 104:48-60 (2011)

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