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glycine encephalopathy

Medical 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.

Wikipedia Summary

Glycine encephalopathy is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism...
Related Codes (1)
Code
Description
Billable
Details
E72.51Non-ketotic hyperglycinemia

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