Literature DB >> 1331606

Investigation of enzyme defects in children with lactic acidosis.

B Merinero1, C Pérez-Cerda, M Ugarte.   

Abstract

Screening for enzyme deficiencies was carried out in cultured skin fibroblasts and leukocytes of 19 patients with lactic acidosis and neurological problems. Pyruvate carboxylase deficiency was demonstrated in three cases. Reduced pyruvate oxidation was found in seven cultures; six showed no significant stimulation of the oxidation rate by methylene blue and in three a decreased pyruvate dehydrogenase complex activity was confirmed. Methylene blue restored a near normal oxidation rate in the seventh culture which had decreased cytochrome c oxidase activity.

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Year:  1992        PMID： 1331606     DOI： 10.1007/bf01800009

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


  30 in total

1.  Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.

Authors:  A B Burlina; M Poletto; Y S Shin; F Zacchello
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

Authors:  P T Clayton; K Hyland; M Brand; J V Leonard
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

3.  Clinical and biochemical studies on cytochrome oxidase deficiencies.

Authors:  E A Schon; E Bonilla; A Lombes; C T Moraes; H Nakase; R Rizzuto; M Zeviani; S DiMauro
Journal:  Ann N Y Acad Sci       Date:  1988       Impact factor: 5.691

4.  In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain.

Authors:  T R Chen
Journal:  Exp Cell Res       Date:  1977-02       Impact factor: 3.905

5.  Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).

Authors:  M Zeviani; C Gellera; C Antozzi; M Rimoldi; L Morandi; F Villani; V Tiranti; S DiDonato
Journal:  Lancet       Date:  1991-07-20       Impact factor: 79.321

6.  Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

Authors:  B H Robinson; N McKay; P Goodyer; G Lancaster
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

7.  A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

Authors:  J A Del Valle; M J Garcia; B Merinero; C Pérez-Cerdá; F Roman; A Jimenez; M Ugarte; M Martínez-Pardo; C Ludeña; C Camarero
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 8.  Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase.

Authors:  B H Robinson
Journal:  J Bioenerg Biomembr       Date:  1988-06       Impact factor: 2.945

9.  Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.

Authors:  N G Kennaway; N R Buist; V M Darley-Usmar; A Papadimitriou; S Dimauro; R I Kelley; R A Capaldi; N K Blank; A D'Agostino
Journal:  Pediatr Res       Date:  1984-10       Impact factor: 3.756

Review 10.  [Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].

Authors:  B Merinero Cortés; J del Valle Martínez; C Pérez-Cerdá Silvestre; M J García Muñoz; M T Cortés Coto; J García Aparicio; E Sáez Pérez; M Ugarte Pérez
Journal:  An Esp Pediatr       Date:  1988-07
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