" /> Glycine Encephalopathy - CISMeF





Preferred Label : Glycine Encephalopathy;

NCIt synonyms : Nonketotic Hyperglycinemia;

NCIt related terms : Non-Ketotic Hyperglycinemia;

NCIt definition : An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.;

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30/07/2025


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