Literature DB >> 6790846

Lactic acidosis due to pyruvate carboxylase deficiency.

J C Haworth, B H Robinson, T L Perry.   

Abstract

Two unrelated Canadian Indian infants presented with metabolic acidosis. Lactate, pyruvate, glutamic acid, proline and alanine were greatly elevated in plasma. Urinary excretion of alpha-ketoglutarate and pyruvate was increased. Pyruvate carboxylase activity was very low in skin fibroblasts and liver. Phosphoenolpyruvate carboxykinase was low in liver. Both infants were unresponsive to several enzyme cofactors, including biotin. Both survive at age 2 years with severe mental retardation..

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Year:  1981        PMID： 6790846     DOI： 10.1007/BF02263589

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  8 in total

Review 1.  Lactic acidosis in childhood.

Authors:  S Israels; J C Haworth; H G Dunn; D A Applegarth
Journal:  Adv Pediatr       Date:  1976

2.  Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.

Authors:  F J Ballard; R W Hanson
Journal:  Biochem J       Date:  1967-09       Impact factor: 3.857

3.  Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease.

Authors:  B M Atkin; N R Buist; M F Utter; A B Leiter; B Q Banker
Journal:  Pediatr Res       Date:  1979-02       Impact factor: 3.756

4.  Studies on the mechanism of activation of adipose tissue pyruvate dehydrogenase by insulin.

Authors:  S I Taylor; C Mukherjee; R L Jungas
Journal:  J Biol Chem       Date:  1973-01-10       Impact factor: 5.157

5.  Leigh's encephalomyelopathy: an inborn error of gluconeogenesis.

Authors:  F A Hommes; H A Polman; J D Reerink
Journal:  Arch Dis Child       Date:  1968-08       Impact factor: 3.791

6.  Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency.

Authors:  J P Van Biervliet; L Bruinvis; C van der Heiden; D Ketting; S K Wadman; J L Willemse; L A Monnens
Journal:  Dev Med Child Neurol       Date:  1977-06       Impact factor: 5.449

7.  Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

Authors:  B M Atkin; M F Utter; M B Weinberg
Journal:  Pediatr Res       Date:  1979-01       Impact factor: 3.756

8.  Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.

Authors:  J M Saudubray; C Marsac; C L Cathelineau; M Besson Leaud; J P Leroux
Journal:  Acta Paediatr Scand       Date:  1976-11
  8 in total
  13 in total

1.  Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate.

Authors:  Y Kuroda; M Ito; K Toshima; E Takeda; E Naito; T J Hwang; T Hashimoto; M Miyao; M Masuda; K Yamashita
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Salt-inducible Kinase 3 Signaling Is Important for the Gluconeogenic Programs in Mouse Hepatocytes.

Authors:  Yumi Itoh; Masato Sanosaka; Hiroyuki Fuchino; Yasuhito Yahara; Ayako Kumagai; Daisaku Takemoto; Mai Kagawa; Junko Doi; Miho Ohta; Noriyuki Tsumaki; Nobuo Kawahara; Hiroshi Takemori
Journal:  J Biol Chem       Date:  2015-06-05       Impact factor: 5.157

3.  Treatment of congenital lactic acidosis with dichloroacetate.

Authors:  P W Stacpoole; C L Barnes; M D Hurbanis; S L Cannon; D S Kerr
Journal:  Arch Dis Child       Date:  1997-12       Impact factor: 3.791

Review 4.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

5.  The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Authors:  B H Robinson; J Oei; W G Sherwood; D Applegarth; L Wong; J Haworth; P Goodyer; R Casey; L A Zaleski
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

6.  Lactic acidaemia.

Authors:  B H Robinson; W G Sherwood
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

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

Authors:  R W Moreadith; M L Batshaw; T Ohnishi; D Kerr; B Knox; D Jackson; R Hruban; J Olson; B Reynafarje; A L Lehninger
Journal:  J Clin Invest       Date:  1984-09       Impact factor: 14.808

8.  Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.

Authors:  J C Haworth; L A Dilling; L E Seargeant
Journal:  CMAJ       Date:  1991-07-15       Impact factor: 8.262

9.  Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.

Authors:  B H Robinson; J Taylor; B Francois; A L Beaudet; D F Peterson
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183

10.  Brain amino acid abnormalities in pyruvate carboxylase deficiency.

Authors:  T L Perry; J C Haworth; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
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