non-ketotic hyperglycinemia (glycine encephalopathy)

Pathology

• accumulation of a large amount of glycine in body fluid

Genetics

• autosomal recessive
• associated with defects in components of the glycine cleavage system: GCSH, GLDC, AMT

Clinical manifestations

severe neurological symptoms

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/605899