| A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine. | |
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MedLine Citation:
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PMID: 6791975 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Developmental medicine and child neurology Volume: 23 ISSN: 0012-1622 ISO Abbreviation: Dev Med Child Neurol Publication Date: 1981 Aug |
Date Detail:
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Created Date: 1981-11-22 Completed Date: 1981-11-22 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0006761 Medline TA: Dev Med Child Neurol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 521-30 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aspartic Acid
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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:
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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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