Document Detail


Congenital lactic acidosis associated with pyruvate carboxylase deficiency.
MedLine Citation:
PMID:  6799424     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Sagy; Z Barzilay; V Barash; M Oren; P Vardi; B E Cohen; A Gutman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Israel journal of medical sciences     Volume:  17     ISSN:  0021-2180     ISO Abbreviation:  Isr. J. Med. Sci.     Publication Date:  1981 Dec 
Date Detail:
Created Date:  1982-04-20     Completed Date:  1982-04-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0013105     Medline TA:  Isr J Med Sci     Country:  ISRAEL    
Other Details:
Languages:  eng     Pagination:  1159-63     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Acidosis / congenital*,  etiology
Humans
Infant
Lactates / metabolism*
Male
Pyruvate Carboxylase / metabolism
Pyruvate Carboxylase Deficiency Disease*
Chemical
Reg. No./Substance:
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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