Search for a rare disease
Other search option(s)
Infantile glycine encephalopathy
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
ORPHA:289860Classification level: Subtype of disorder
- Infantile NKH
- Infantile non-ketotic hyperglycinemia
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E72.5
- OMIM: 605899
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
The prevalence of infantile glycine encephalopathy is not known. Infantile cases are less frequent than the classical neonatal form of GE (neonatal GE; see this term).
Patients present with infantile-onset seizures and variable psychomotor delay after initially normal development, and often have a relatively long history of hypotonia. Seizures of any type are found in less than half of patients and some develop choreoathetosis. Developmental delay mostly affects language and behavioral problems are sometimes found including temper tantrums, irritability, aggressiveness and rage. Attention deficit-hyperactivity disorder (AD-HD) is also sometimes found. Patients do not have lethargy or coma in the neonatal period, unlike those with neonatal GE. The course may be mild or severe (50% of patients in each case).
Mutations in two genes are known to cause glycine encephalopathy: GLDC (9p22) and AMT (3p21.2-p21.1).
Infantile GE is inherited in an autosomal recessive manner.
Article for general public