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Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Mol Genet Metab.. 2016-05; 
Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD.
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Mutagenesis Services ... 2.4. PCK1 mutagenesis and transfection into COS-1 cells. Human cytosolic phosphoenolpyruvate carboxykinase 1 (PCK1) full-length cDNA (GenBank accession # NM_002591) was cloned in pcDNA3.1 mammalian expression vector (GenScript). ... Get A Quote
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摘要

We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute liver failure failed to yield a diagnosis. Whole exome sequencing revealed a homozygous 12-bp deletion in PCK1 (MIM 614168) encoding cytosolic phosphoenolpyruvate carboxykinase (PEPCK); enzymatic studies subsequently confirmed its pathogenic nature. We propose that PEPCK deficiency should be considered in the young child with unexplained liver failure, especially where there are marked, accumulations of TCA cycle metabolites on urine organic acid analysis and/o... More

关键词

Hepatopathy; Hyperammonaemia; Lactic acidosis; PCK1; PEPCK; Treatment