| Congenital lactic acidosis associated with pyruvate carboxylase deficiency. | |
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MedLine Citation:
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PMID: 6799424 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two cases of congenital lactic acidosis associated with pyruvate carboxylase deficiency are described. One 2-mo-old infant had a fulminant clinical course with extremely severe intractable acidosis and died after 48 h in hospital. The second infant, aged 2 1/2 mo, had a milder clinical course, characterized by moderate acidosis and frequent convulsive episodes. He died at the age of 3 mo due to respiratory arrest following prolonged status epilepticus. Pyruvate carboxylase activity in liver biopsy specimens obtained from the two patients was 1 and 50% of normal, respectively. Both patients failed to respond to treatment, including massive doses of thiamine and high serum levels of lactate and pyruvate were found throughout their illnesses. Cerebral autopsy performed in both cases was unremarkable. Absence of neuropathological findings ruled out the possibility of Leigh's disease. |
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Authors:
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M Sagy; Z Barzilay; V Barash; M Oren; P Vardi; B E Cohen; A Gutman |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Israel journal of medical sciences Volume: 17 ISSN: 0021-2180 ISO Abbreviation: Isr. J. Med. Sci. Publication Date: 1981 Dec |
Date Detail:
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Created Date: 1982-04-20 Completed Date: 1982-04-20 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0013105 Medline TA: Isr J Med Sci Country: ISRAEL |
Other Details:
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Languages: eng Pagination: 1159-63 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis
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congenital*,
etiology Humans Infant Lactates / metabolism* Male Pyruvate Carboxylase / metabolism Pyruvate Carboxylase Deficiency Disease* |
| Chemical | |
Reg. No./Substance:
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0/Lactates; EC 6.4.1.1/Pyruvate Carboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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