Nonketotic hyperglycinemia: Report of a case and review of the clinical, chemical, and pathological changes

Nonketotic hyperglycinemia: Report of a case and review of the clinical, chemical, and... A female infant with neonatal hypotonia and lethargy was found to have nonketotic hyperglycinemia. She died at the age of 5 days. Autopsy revealed slightly retarded myelination and severe spongy change in the well‐myelinated areas of the brain. Analysis of this and the other 26 reported cases suggests that patients with nonketotic hyperglycinemia develop severe mental retardation, not seen in ketotic hyperglycinemia. Elevated glycine levels in the brain and cerebrospinal fluid appear to differentiate these two forms of hyperglycinemia better than the presence of ketosis or leukopenia, and high glycine levels apparently occur in the same areas as the spongy change. While both forms show defective glycine cleavage in the liver, defective glycine cleavage in the brain has been reported only in nonketotic hyperglycinemia. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Neurology Wiley

Nonketotic hyperglycinemia: Report of a case and review of the clinical, chemical, and pathological changes

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Publisher
Wiley
Copyright
Copyright © 1977 Wiley Subscription Services
ISSN
0364-5134
eISSN
1531-8249
DOI
10.1002/ana.410010413
pmid
617256
Publisher site
See Article on Publisher Site

Abstract

A female infant with neonatal hypotonia and lethargy was found to have nonketotic hyperglycinemia. She died at the age of 5 days. Autopsy revealed slightly retarded myelination and severe spongy change in the well‐myelinated areas of the brain. Analysis of this and the other 26 reported cases suggests that patients with nonketotic hyperglycinemia develop severe mental retardation, not seen in ketotic hyperglycinemia. Elevated glycine levels in the brain and cerebrospinal fluid appear to differentiate these two forms of hyperglycinemia better than the presence of ketosis or leukopenia, and high glycine levels apparently occur in the same areas as the spongy change. While both forms show defective glycine cleavage in the liver, defective glycine cleavage in the brain has been reported only in nonketotic hyperglycinemia.

Journal

Annals of NeurologyWiley

Published: Jan 1, 1977

References

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