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Lactic Acidosis in a Newborn With Adrenal Calcifications

ALEKSANDRA ZECIC UGent, Joél Smet UGent, Claudine De Praeter UGent, Piet Vanhaesebrouck UGent, Carlo Viscomi, Caroline Van den Broecke UGent, Boel De Paepe UGent, Peter Lohse, Jean-Jacques Martin and Joshua Jackson, et al. (2009) PEDIATRIC RESEARCH. 66(3). p.317-322
abstract
A patient is reported who presented in the newborn period with an unusual combination of congenital lactic acidosis and bilateral calcifications in the adrenal medulla, visible on standard abdominal x-ray and ultrasound examination. At birth, the proband was hypotonic and dystrophic. She developed respiratory insufficiency, cardiomegaly, and hepatomegaly and died at the age of 38 d. Examination of postmortem heart muscle revealed multiple areas of myocardial infarction with dystrophic calcifications. In the medulla of the adrenal glands, foci of necrosis and calcifications, and in the liver, multiple zones of necrosis and iron deposition were detected. Biochemical-analysis in heart muscle revealed a decreased activity of complex IV of the oxidative phosphorylation (OXPHOS) and in liver a combined deficiency involving the complexes I, III, IV, and V. The findings were suggestive of a defect in biosynthesis of the mitochondrially encoded subunits of the OXPHOS complexes. Extensive analysis of the proband's mitochondrial DNA revealed neither pathogenic deletions and point mutations nor copy number alterations. Relative amounts of mitochondrial transcripts for the ribosomal mitochondrial 12S rRNA (12S) and mitochondrial 16S rRNA (16S) were significantly increased suggesting a compensatory mechanism involving the transcription machinery to low levels of translation. The underlying molecular defect has not been identified yet.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
SIBLINGS, DEFECTS, DEFICIENCY, TRANSLATION, RESPIRATORY-CHAIN, MUTATION, DISEASE, INFANCY
journal title
PEDIATRIC RESEARCH
Pediatr. Res.
volume
66
issue
3
pages
317 - 322
publisher
INT PEDIATRIC RESEARCH FOUNDATION, INC
place of publication
351 W CAMDEN ST, BALTIMORE, MD 21201-2436 USA
Web of Science type
Article
Web of Science id
000269339800014
JCR category
PEDIATRICS
JCR impact factor
2.607 (2009)
JCR rank
14/94 (2009)
JCR quartile
1 (2009)
ISSN
0031-3998
language
English
UGent publication?
yes
classification
A1
id
771069
handle
http://hdl.handle.net/1854/LU-771069
date created
2009-10-29 16:55:43
date last changed
2009-11-06 09:47:49
@article{771069,
  abstract     = {A patient is reported who presented in the newborn period with an unusual combination of congenital lactic acidosis and bilateral calcifications in the adrenal medulla, visible on standard abdominal x-ray and ultrasound examination. At birth, the proband was hypotonic and dystrophic. She developed respiratory insufficiency, cardiomegaly, and hepatomegaly and died at the age of 38 d. Examination of postmortem heart muscle revealed multiple areas of myocardial infarction with dystrophic calcifications. In the medulla of the adrenal glands, foci of necrosis and calcifications, and in the liver, multiple zones of necrosis and iron deposition were detected. Biochemical-analysis in heart muscle revealed a decreased activity of complex IV of the oxidative phosphorylation (OXPHOS) and in liver a combined deficiency involving the complexes I, III, IV, and V. The findings were suggestive of a defect in biosynthesis of the mitochondrially encoded subunits of the OXPHOS complexes. Extensive analysis of the proband's mitochondrial DNA revealed neither pathogenic deletions and point mutations nor copy number alterations. Relative amounts of mitochondrial transcripts for the ribosomal mitochondrial 12S rRNA (12S) and mitochondrial 16S rRNA (16S) were significantly increased suggesting a compensatory mechanism involving the transcription machinery to low levels of translation. The underlying molecular defect has not been identified yet.},
  author       = {ZECIC, ALEKSANDRA and Smet, Jo{\'e}l and De Praeter, Claudine and Vanhaesebrouck, Piet and Viscomi, Carlo and Van den Broecke, Caroline and De Paepe, Boel and Lohse, Peter and Martin, Jean-Jacques and Jackson, Joshua and Campbell, Colin and De Meirleir, Linda and Zeviani, Massimo and Seneca, Sara and Lissens, Willy and Van Coster, Rudy},
  issn         = {0031-3998},
  journal      = {PEDIATRIC RESEARCH},
  keyword      = {SIBLINGS,DEFECTS,DEFICIENCY,TRANSLATION,RESPIRATORY-CHAIN,MUTATION,DISEASE,INFANCY},
  language     = {eng},
  number       = {3},
  pages        = {317--322},
  publisher    = {INT PEDIATRIC RESEARCH FOUNDATION, INC},
  title        = {Lactic Acidosis in a Newborn With Adrenal Calcifications},
  volume       = {66},
  year         = {2009},
}

Chicago
ZECIC, ALEKSANDRA, Joél Smet, Claudine De Praeter, Piet Vanhaesebrouck, Carlo Viscomi, Caroline Van den Broecke, Boel De Paepe, et al. 2009. “Lactic Acidosis in a Newborn With Adrenal Calcifications.” Pediatric Research 66 (3): 317–322.
APA
ZECIC, A., Smet, J., De Praeter, C., Vanhaesebrouck, P., Viscomi, C., Van den Broecke, C., De Paepe, B., et al. (2009). Lactic Acidosis in a Newborn With Adrenal Calcifications. PEDIATRIC RESEARCH, 66(3), 317–322.
Vancouver
1.
ZECIC A, Smet J, De Praeter C, Vanhaesebrouck P, Viscomi C, Van den Broecke C, et al. Lactic Acidosis in a Newborn With Adrenal Calcifications. PEDIATRIC RESEARCH. 351 W CAMDEN ST, BALTIMORE, MD 21201-2436 USA: INT PEDIATRIC RESEARCH FOUNDATION, INC; 2009;66(3):317–22.
MLA
ZECIC, ALEKSANDRA, Joél Smet, Claudine De Praeter, et al. “Lactic Acidosis in a Newborn With Adrenal Calcifications.” PEDIATRIC RESEARCH 66.3 (2009): 317–322. Print.