4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency

@article{MedinaKauwe19994AminobutyrateA,
  title={4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency},
  author={L. K. Medina-Kauwe and Allan J. Tobin and Linda J De Meirleir and Jaak Jaeken and Cornelis Jakobs and William L. Nyhan and K Michael Gibson},
  journal={Journal of Inherited Metabolic Disease},
  year={1999},
  volume={22},
  pages={414-427}
}
4-Aminobutyrate aminotransferase (GABA-transaminase, GABA-T, EC 2.6.1.19) deficiency (McKusick 137150), an inborn error of GABA degradation, has until now been documented in only a single Flemish child. Compared to the other defects of GABA degradation, succinic semialdehyde dehydrogenase (SSADH, EC 1.2.1.24) deficiency with >150 patients (McKusick 271980) and pyridoxine-dependent seizures with >100 patients ('putative'glutamic acid decarboxylase (GAD, EC 4.1.1.15) deficiency; McKusick 266100… CONTINUE READING

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