α-Aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by α-aminoadipic semialdehyde dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 91, Issue 4, 2007, Pages 405-

  Struys, Eduard A ^a   Jakobs, C ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALLYSINE; AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; BIOLOGICAL MARKER; PIPECOLIC ACID; PYRIDOXINE;

ENZYME DEFICIENCY; EPILEPSY; GENE MUTATION; HUMAN; HYPERPROLINEMIA; LETTER; PRIORITY JOURNAL; URINALYSIS;

ALDEHYDE DEHYDROGENASE; BIOLOGICAL MARKERS; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEIZURES;

EID: 34447273817     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.04.016     Document Type: Letter

References (6)

1. Mills P.B., Struys E., Jakobs C., Plecko B., Baxter P., Baumgartner M., Willemsen M.A., Omran H., Tacke U., Uhlenberg B., Weschke B., and Clayton P.T. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat. Med. 12 3 (2006) 307-309
2. Plecko B., Paul K., Paschke E., Stoeckler-Ipsiroglu S., Struys E., Jakobs C., Hartmann H., Luecke T., di Capua M., Korenke C., Hikel C., Reutershahn E., Freilinger M., Baumeister F., Bosch F., and Erwa W. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 28 (2007) 19-26
3. Bok L.A., Struys E., Willemsen M.A., Been J.V., and Jakobs C. Pyridoxine dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch. Dis. Child (2006) Nov Epub ahead of print
4. Farrant R.D., Walker V., Mills G.A., Mellor J.M., and Langley G.J. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J. Biol. Chem. 276 (2001) 15107-15116
5. Peduto A., Baumgartner M.R., Verhoeven N.M., Rabier D., Spada M., Nassogne M.C., Poll-The B.T., Bonetti G., Jakobs C., and Saudubray J.M. Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. Mol. Genet Metab. 82 (2004) 224-230
6. Kanno J., Kure S., Narisawa A., Kamada F., Takayanagi M., Yamamoto K., Hoshino H., Goto T., Takahashi T., Haginoya K., Tsuchiya S., Baumeister F.A.M., Hasegawa Y., Aoki Y., Yamaguchi S., and Matsubara Y. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol. Genet. Metab. 91 (2007) 384-389