Glycine Encephalopathy
Pathogenesis (Neurotransmitter Disorder)
- Glycine Cleavage Enzyme deficiency results in failure of glycine breakdown with toxic accumulation of glycine, which leads to brain and spinal cord pathology.
Clinical
- Onset: Birth
- Presentation: Lethargy, Poor Feeding, Hypotonia, Abnormal Jerking
- Neurological manifestations: Cognitive Delay, Seizures
Genetics
- GLDC gene (primarily)
- Autosomal Recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov