Two Cases of Phosphoenolpyruvate Carboxykinase Deficiency

Hommes, F. A.; Bendien, K.; Elema, Job D.; Bremer, H. J.; Lombeck, I.

doi:10.1111/j.1651-2227.1976.tb16543.x

Cited by 58 publications

(24 citation statements)

References 41 publications

(9 reference statements)

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“…A primary deficiency of this enzyme has therefore been sought in infants presenting with hypoglycaemia and accumulation of the gluconeogenic precursors, lactate, pyruvate and alanine. Reduced enzyme activity has been reported in five such infants [7,9,14,18]. They form a heterogeneous group, which may in part be explained by the presence of distinct mitochondrial and cytosolic isoenzymes, which serve different functions.…”

Section: Introductionmentioning

confidence: 96%

Mitochondrial phosphoenolpyruvate carboxykinase deficiency

et al. 1986

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A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema. Disordered liver function tests were associated with the biopsy appearances of a giant cell hepatitis and with a Fanconi syndrome. At the age of 16 weeks she collapsed with profound hypoglycaemia. Fasting also provoked hypoglycaemia with lactic acidaemia. She became increasingly irritable and hypotonic and, although initially liver and renal function improved, she deteriorated and died of hepatocellular failure and septicaemia. A post-mortem revealed massive fatty degeneration of the liver. The activity of phosphoenolpyruvate carboxykinase in her cultured skin fibroblasts was 16% of controls. Her brother died at the age of 4 weeks of sudden infant death syndrome.

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Section: Introductionmentioning

confidence: 96%

Mitochondrial phosphoenolpyruvate carboxykinase deficiency

et al. 1986

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“…These conditions are accompanied to a variable degree by hyperalaninemia, hypoglycemia, neurologic impairment, and muscular hypotonia. The differential diagnosis of this group of disorders involves distinguishing among glycogen storage diseases (1,2), organic acidemias (3), carnitine deficiency (4), primary deficiencies in the enzymes of gluconeogenesis (including pyruvate carboxylase [PC]' (5,6), phosphoenolpyruvate carboxykinase [PEPCK] (7,8), and fructose 1,6-bisphosphatase [9]), defects in the pyruvate dehydrogenase complex (PDC) (10-12), pyridine nucleotide shuttle mechanisms (13), and defects in mitochondrial electron transport (14). Recently, there has been a brief report (15) of two infants in one family with congenital lactic acidosis associated with a defect in the functional activity of mitochondrial NADH-ubiquinone oxidoreductase (complex I).…”

Section: Introductionmentioning

confidence: 99%

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.

et al. 1984

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Abs tract. We report the case of an infant with hypoglycemia, progressive lactic acidosis, an increased serum lactate/pyruvate ratio, and elevated plasma alanine, who had a moderate to profound decrease in the ability of mitochondria from four organs to oxidize pyruvate, malate plus glutamate, citrate, and other NADW-linked respiratory substrates. The capacity to oxidize the flavin adenine dinucleotide-linked substrate, succinate, was normal. The most pronounced deficiency was in skeletal muscle, the least in kidney mitochondria. Enzymatic assays on isolated mitochondria ruled out defects in complexes II, III, and IV of the respiratory chain. Further studies showed that the defect was localized in the inner membrane mitochondrial NADHubiquinone oxidoreductase (complex I). When ferricyanide was used as an artificial electron acceptor, complex I activity was normal, indicating that electrons from NADH could reduce the flavin mononucleotide cofactor. However, electron paramagnetic resonance spectroscopy performed on liver submitochondrial particles showed an almost total loss of the iron-sulfur clusters characteristic of complex I, whereas normal signals were noted Dr. Moreadith is the recipient of a National Research Service Award from the U. S. Public Health Service. His current address is the Duke

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“…PCK1 encodes phosphoenolpyruvate carboxykinase 1, which catalyzes the formation of phosphoenolpyruvate from oxaloacetate, releasing carbon dioxide and GDP. Defect in this gene cause cytosolic phosphoenolpyruvate carboxykinase deficiency (Hommes et al, 1976). LDHB encodes lactate dehydrogenase B, which catalyzes the reversible conversion of lactate and pyruvate, as well as NAD and NADH, in the glycolytic pathway.…”

Section: Scd Acaca Fasn Cd74mentioning

confidence: 99%

Gene Expression Profiling of Broiler Liver under Cold Stress by High-Throughput Sequencing Technology

Liu

Lü

et al. 2017

J. Poult. Sci.

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Cold stress is a major environmental factor restricting the sustainable development of animal husbandry. To gain insight into the gene-regulation processes in broilers under cold stress, gene expression profiling was conducted using high-throughput Solexa sequencing of broiler liver tissue under cold stress conditions and control conditions. According to Solexa sequencing, we identified 255 genes whose expression levels differed between the treatment and control group. Under cold stress, 135 genes were up-regulated and 120 genes were down-regulated genes compared with levels in the control group. Moreover, 469 genes were expressed only in the control group, and 172 genes were expressed only in the treatment group. These data were confirmed by real-time quantitative PCR. Gene Ontology enrichment analysis showed that the differentially expressed genes (DEGs) were mainly enriched in material metabolism and immune functions. KEGG enrichment analysis showed that DEGs were enriched in pyruvate metabolism, glycolysis/gluconeogenesis, fatty acid metabolism，insulin signaling pathway and others. In conclusion, these results may serve as an important reference for broiler breeding and provide new clues for the elucidation of molecular mechanisms of cold stress.

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Two Cases of Phosphoenolpyruvate Carboxykinase Deficiency

Cited by 58 publications

References 41 publications

Mitochondrial phosphoenolpyruvate carboxykinase deficiency

Mitochondrial phosphoenolpyruvate carboxykinase deficiency

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.

Gene Expression Profiling of Broiler Liver under Cold Stress by High-Throughput Sequencing Technology

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