Neonatal glycine encephalopathy: biochemical and neuropathologic findings.
A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central nervous system and calcium oxalate crystals in the cerebellum, which are probably derived from degradation of glycine. Myelinopathy appeared to be static compared to neonatal patients. The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage.
Agamanolis
D P
DP
Department of Pathology (Neuropathology), Northeast Ohio Universities College of Medicine, Rootstown.
Potter
J L
JL
Lundgren
D W
DW
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D000596:Amino Acids / Q000097:blood; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000235:genetics / Q000473:pathology*; D002129:Calcium Oxalate / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003460:Crystallization; D005500:Follow-Up Studies; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009186:Myelin Sheath / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology
D000596:Amino Acids; D002129:Calcium Oxalate; D005998:Glycine