Literature DB >> 11292221

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.

F Scaglia1, V R Sutton, O A Bodamer, H Vogel, S K Shapira, R K Naviaux, G D Vladutiu.   

Abstract

We report a patient with mitochondrial DNA depletion, partial complex II and IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency has not been previously observed in mitochondrial DNA depletion syndromes. The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11292221     DOI： 10.1177/088307380101600214

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  8 in total

1.  Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

Authors:  Y Anikster; R Kleta; A Shaag; W A Gahl; O Elpeleg
Journal:  Am J Hum Genet       Date:  2001-10-19       Impact factor: 11.025

2.  OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Authors:  Marjan Huizing; Heidi Dorward; Lien Ly; Enriko Klootwijk; Robert Kleta; Flemming Skovby; Wuhong Pei; Benjamin Feldman; William A Gahl; Yair Anikster
Journal:  Mol Genet Metab       Date:  2010-03-16       Impact factor: 4.797

Review 3.  Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.

Authors:  Betty Su; Robert O Ryan
Journal:  J Inherit Metab Dis       Date:  2014-01-10       Impact factor: 4.982

Review 4.  Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Authors:  Moacir Wajner; Stephen I Goodman
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945

5.  Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.

Authors:  S Yano; L Li; T P Le; K Moseley; A Guedalia; J Lee; I Gonzalez; R G Boles
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 6.  The 3-methylglutaconic acidurias: what's new?

Authors:  Saskia B Wortmann; Leo A Kluijtmans; Udo F H Engelke; Ron A Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982

7.  Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Authors:  Christina Lam; Linda K Gallo; Richard Dineen; Carla Ciccone; Heidi Dorward; George E Hoganson; Lynne Wolfe; William A Gahl; Marjan Huizing
Journal:  Mol Genet Metab Rep       Date:  2014-01-01

8.  Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.

Authors:  Fernando Scaglia; Angela E Scheuerle; Jeffrey A Towbin; Dawna L Armstrong; Lawrence Sweetman; Lee-Jun C Wong
Journal:  BMC Pediatr       Date:  2002-12-30       Impact factor: 2.125
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.