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doi: 10.3390/cancers16213575 436 CirmiSMaugeriAFerlazzoNGangemiSCalapaiGSchumacherUet al

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

Other symptoms may include difficulty walking, vision problems, and mood changes