New York: Springer-Verlag
Parry-Strong A, Langdana F, Haeusler S, Weatherall M, Krebs J
Abbreviations 2-OPP: 6R-oxopropylpiperidine-2-carboxylic acid 3-PGDH: 3-phosphoglycerate dehydrogenase 5-MTHF: 5-methyltetrahydrofolate AADC: Aromatic L-amino acid decarboxylase ADHD: Attention-deficit/hyperactivity disorder ALDH4A1: Acetaldehyde dehydrogenase 4 family member A1 ALDH7A1: Acetaldehyde dehydrogenase 7 family member A1 BTBGD: Biotin-thiamine responsive basal ganglia disease BTD: Biotinase deficiency FH4: Tetrahydrofolate FR1: Folate receptor protein 1 GSA: Glutamate semialdehyde GTC: Generalized tonic-clonic GTCS: Generalized tonic-clonic seizures HPII: Type II hyperprolinemia HVA: Homovanillic acid NMDA: N-methyl-D-aspartate P5C: Pyrroline-5-carboxylate P5CDH: Delta(1)-pyrroline-5-carboxylate dehydrogenase P6C: Piperideine 6-carboxylate PCFT: Proton-coupled folate transporter PL: Pyridoxal PLP: Pyridoxal 5'-phosphate PLPHP: Pyridoxal phosphate homeostasis protein PM: Pyridoxamine PN: Pyridoxine PNPO: Pyridoxal (amine) 5'-phosphate oxidase PPI: Inorganic pyrophosphate SAH: S-adenosylhomocysteine SAM: S-adenosylmethionine SIA: Seizures with impaired awareness THTR2: Thiamine transporter protein 2 TNSALP: Tissue non-specific alkaline phosphatase -AASA: -aminoadipic semialdehyde References Devinsky O, Vezzani A, OBrien TJ, Jette N, Scheffer IE, de Curtis M, et al
Shelf life is supplier-specific and formulation-dependent
InChI:InChI=1/C62H98N16O22/c1-31(2)25-37(55(92)74-50(32(3)4)62(99)100)71-46(81)29-65-51(88)33(5)67-53(90)38(26-48(84)85)73-54(91)39(27-49(86)87)72-52(89)34(6)68-57(94)41-15-10-21-75(41)58(95)35(13-7-8-20-63)70-45(80)30-66-56(93)40-14-9-22-76(40)60(97)43-17-12-24-78(43)61(98)42-16-11-23-77(42)59(96)36(18-19-47(82)83)69-44(79)28-64/h31-43,50H,7-30,63-64H2,1-6H3,(H,65,88)(H,66,93)(H,67,90)(H,68,94)(H,69,79)(H,70,80)(H,71,81)(H,72,89)(H,73,91)(H,74,92)(H,82,83)(H,84,85)(H,86,87)(H,99,100)/t33-,34-,35?,36-,37-,38-,39-,40-,41-,42-,43-,50-/m0/s1
