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Nonketotic hyperglycinaemia

Definition: An autosomal recessive inherited 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.

Synonyms (terms occurring on more labels are shown first): nonketotic hyperglycinemia, non-ketotic hyperglycinemia

More information: PubMed search and possibly Wikipedia

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