Neonatal glycine encephalopathy: biochemical and neuropathologic findings.

Neonatal glycine encephalopathy: biochemical and neuropathologic findings.

Agamanolis D P; Potter J L; Lundgren D W

Pediatric neurology

1993

1993-04

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.

Adolescent; Amino Acid Metabolism; Amino Acids/blood; Brain Diseases; Brain/pathology; Calcium Oxalate/blood; Child; Crystallization; Follow-Up Studies; Glycine/*blood; Humans; Inborn Errors/genetics/*pathology; Infant; Male; Metabolic/genetics/*pathology; Myelin Sheath/*pathology; Newborn; Preschool; Spinal Cord/pathology

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