Document Detail


A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine.
MedLine Citation:
PMID:  6791975     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A seven-year-old girl with slowly progressive motor neurological impairment and high levels of lactate and pyruvate in blood and cerebrospinal fluid was found to have severe hepatic pyruvate carboxylase deficiency. However, in contrast to other patients with this deficiency, no mental retardation was apparent. Treatment with aspartic acid and thiamine over a period of seven years resulted in biochemical improvement and a stable neurological condition. The level of cognitive functioning remained the same. When treatment with aspartic acid was temporarily discontinued, lactate and pyruvate concentrations increased so markedly that the drug was resumed. This indicates that aspartic acid was the effective drug, and that the effect of thiamine was secondary.
Authors:
M G Baal; F J Gabreëls; W O Renier; F A Hommes; T H Gijsbers; K J Lamers; J C Kok
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  23     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  1981 Aug 
Date Detail:
Created Date:  1981-11-22     Completed Date:  1981-11-22     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  521-30     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aspartic Acid / therapeutic use*
Child
Female
Humans
Lactates / blood,  cerebrospinal fluid
Lactic Acid
Liver / enzymology*
Psychological Tests
Pyruvate Carboxylase Deficiency Disease*
Pyruvates / blood,  cerebrospinal fluid
Pyruvic Acid
Thiamine / therapeutic use*
Chemical
Reg. No./Substance:
0/Lactates; 0/Pyruvates; 127-17-3/Pyruvic Acid; 50-21-5/Lactic Acid; 56-84-8/Aspartic Acid; 59-43-8/Thiamine

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


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