Saadet Mercimek-Mahmutoglu Dawn Corderio Laura Nagy Carly Mutch Melissa Carter Eduard Struys Lianna Kyriakopoulou
10.1016/j.ymgmr.2014.02.001
Mol Genet Metab Rep
2014 Apr 1;1:124-128.
5-hiaa, 5-hydroxyindolacetic acid alpha-amino adipic acid semialdehyde dehydrogenase deficiency cns, central nervous system csf, cerebral spinal fluid csf-pa, csf pa csf-α-aasa, csf α-aasa ga-i, glutaric aciduria type i hva, homovanillic acid levels lysine restricted diet msel, mullen scales of early learning p5cr, pyrroline-5-carboxylate reductase p6c, piperidine 6-carboxylic acid pa, pipecolic acid pde, pyridoxine dependent epilepsy pde-aldh7a1, pde caused by aldh7a1 genetic defect pdms-2, peabody developmental motor scales — 2nd edition pyridoxine dependent epilepsy α aasas, α-aasa synthase α-aasa, alpha-aminoadipic acid semialdehyde α-aasad, alpha-aminoadipic acid semialdehyde dehydrogenase
CC BY-NC-SA
https://pubmed.ncbi.nlm.nih.gov/27896080/
Case Reports
PMC5121319
27896080
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
2014