Document Detail


Nonketotic hyperglycinemia: studies in an atypical variant.
MedLine Citation:
PMID:  2464775     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We diagnosed a 22-year-old man with psychomotor retardation, rare seizures, hyperglycinemia, and hyperglycinuria as an atypical variant of nonketotic hyperglycinemia (NKH). Despite this clinical phenotype and a CSF/plasma ratio confirming a mild variant, measurement of hepatic glycine cleavage activity and the P-protein component indicated the more severe neonatal variant.
Authors:
H S Singer; D Valle; K Hayasaka; K Tada
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  39     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1989 Feb 
Date Detail:
Created Date:  1989-03-23     Completed Date:  1989-03-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  286-8     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
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MeSH Terms
Descriptor/Qualifier:
Adult
Developmental Disabilities / complications,  physiopathology
Glycine / blood*
Humans
Ketosis / complications
Male
Mental Retardation / complications
Metabolism, Inborn Errors / blood,  complications,  genetics*
Phenotype
Psychomotor Performance
Grant Support
ID/Acronym/Agency:
5-M01 RR-00052/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
56-40-6/Glycine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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