Literature DB >> 6418873

Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.

R Matalon, D A Stumpf, K Michals, R D Hart, J K Parks, S I Goodman.   

Abstract

An 8-month-old boy with severe lactic acidosis was found to have lipoamide dehydrogenase deficiency. Treatment with thiamine, biotin, bicarbonate, protein restriction, and ketogenic diet failed to alleviate the lactic acidosis. Oral administration of lipoic acid 25 to 50 mg/kg produced dramatic improvement in lactic and pyruvic acidemia, which has continued for 2 years and which has been accompanied by clinical improvement.

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6418873     DOI： 10.1016/s0022-3476(84)80591-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  18 in total

Review 1.  Modulation of oxidative stress and mitochondrial function by the ketogenic diet.

Authors:  Julie Milder; Manisha Patel
Journal:  Epilepsy Res       Date:  2011-11-09       Impact factor: 3.045

Review 2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

3.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

4.  Reply to Bailey et al.: New perspectives on the novel role of the Poldip2/ACSM1 axis in a functional mammalian lipoylation salvage pathway.

Authors:  F Paredes; B Lassègue; H C Williams; E A Faidley; G A Benavides; S M Yeligar; K K Griendling; V Darley-Usmar; A San Martin
Journal:  Proc Natl Acad Sci U S A       Date:  2018-07-24       Impact factor: 11.205

Review 5.  Disorders of the pyruvate dehydrogenase complex.

Authors:  D Stansbie; S J Wallace; C Marsac
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

6.  Lipoamidase (lipoyl-X hydrolase) from pig brain.

Authors:  J Oizumi; K Hayakawa
Journal:  Biochem J       Date:  1990-03-01       Impact factor: 3.857

7.  Pipecolic acid induces oxidative stress in vitro in cerebral cortex of young rats and the protective role of lipoic acid.

Authors:  Giovana Reche Dalazen; Melaine Terra; Carlos Eduardo Diaz Jacques; Juliana G Coelho; Raylane Freitas; Priscila Nicolao Mazzola; Carlos Severo Dutra-Filho
Journal:  Metab Brain Dis       Date:  2013-12-12       Impact factor: 3.584

8.  Neuroprotective role of lipoic acid against acute toxicity of N-acetylaspartic acid.

Authors:  Carolina Didonet Pederzolli; Andrea Pereira Rosa; Amanda Szekir de Oliveira; Juliana G Coelho; Débora da Luz Becker; Giovana Reche Dalazen; Tarsila Barros Moraes; Carlos S Dutra-Filho
Journal:  Mol Cell Biochem       Date:  2010-08-05       Impact factor: 3.396

9.  Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction.

Authors:  Y Sakaguchi; M Yoshino; S Aramaki; I Yoshida; F Yamashita; T Kuhara; I Matsumoto; T Hayashi
Journal:  Eur J Pediatr       Date:  1986-09       Impact factor: 3.183

10.  Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy.

Authors:  B Barbiroli; R Medori; H J Tritschler; T Klopstock; P Seibel; H Reichmann; S Iotti; R Lodi; P Zaniol
Journal:  J Neurol       Date:  1995-07       Impact factor: 4.849
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.