Disease

Glycine Encephalopathy

About the Disease
Glycine Encephalopathy, also known as non-ketotic hyperglycinemia, is related to atypical glycine encephalopathy and multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, and has symptoms including lethargy, myoclonus and seizures. An important gene associated with Glycine Encephalopathy is AMT (Aminomethyltransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain, cortex and liver, and related phenotypes are recurrent singultus and hypoplasia of the corpus callosum

Common Targets
GCSH | SLC6A9 | LIAS | AMT | BOLA3 | HCFC1 | GLDC | GLRX5

疾病靶点研报
Glycine Encephalopathy

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