L2hgdh deficiency accumulates L-2-hydroxyglutarate with progressive leukoencephalopathy and neurodegeneration.

2017 Ma, S., Sun, R., Jiang, B., Gao, J., Deng, W., Liu, P., He, R., Cui, J., Ji, M., Yi, W., Yang, P., Wu, X., Xiong, Y., Qiu, Z.*, Ye, D.*, Guan, K.*.