Neonatal glycine encephalopathy

Orpha code: 289857OMIM code: 605899

Definition

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

Disease data
Classification

Clinical subtype

Synonyms
Classic glycine encephalopathy
Klasyczna encefalopatia glicynowa
Nieketonowa hiperglicynemia noworodków
NKH noworodków
Neonatal NKH
Neonatal non-ketotic hyperglycinemia
ORPHA code
289857
OMIM code
605899
ICD10 code
E72.5
ICD11 code
-

No additional description.

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