Document Detail


Neonatal type of nonketotic hyperglycinemia.
MedLine Citation:
PMID:  10328279     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two infants with the neonatal type of nonketotic hyperglycinemia that had manifested as early neonatal consciousness disturbance are presented. Transient hyperammonemia had been detected in both initially. High levels of glycine in plasma and cerebrospinal fluid disturb the nervous system, causing variable manifestations of this disease. Both cases were complicated by intracranial hemorrhage, which has never before been reported. After treatment with sodium benzoate and dextromethorphan, some neurologic improvement was observed, although the glycine levels did not lower. Recent clinical trials are reviewed, and because of the unfavorable outcomes, the special need for prenatal diagnosis is highlighted.
Authors:
F L Lu; P J Wang; W L Hwu; K I Tsou Yau; T R Wang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  20     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1999 Apr 
Date Detail:
Created Date:  1999-06-29     Completed Date:  1999-06-29     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  295-300     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
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MeSH Terms
Descriptor/Qualifier:
Ammonia / blood
Brain / pathology
Female
Glycine / blood*,  cerebrospinal fluid
Humans
Infant, Newborn
Lactic Acid / blood
Magnetic Resonance Imaging
Male
Metabolism, Inborn Errors / blood,  cerebrospinal fluid,  diagnosis*,  therapy
Muscle Hypotonia / diagnosis
Psychomotor Disorders / diagnosis,  rehabilitation
Tomography, X-Ray Computed
Treatment Outcome
Chemical
Reg. No./Substance:
50-21-5/Lactic Acid; 56-40-6/Glycine; 7664-41-7/Ammonia

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


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