Journal article
Lactic Acidosis in a Newborn With Adrenal Calcifications
Pediatric research, v 66(3), pp 317-322
01 Sep 2009
PMID: 19581830
Featured in Collection : UN Sustainable Development Goals @ Drexel
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. (Pediatr Res 66: 317-322, 2009)
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Details
- Title
- Lactic Acidosis in a Newborn With Adrenal Calcifications
- Creators
- Alexandra Zecic - Ghent University HospitalJoel E. Smet - Ghent University HospitalClaudine M. De Praeter - Ghent University HospitalPiet Vanhaesebrouck - Ghent University HospitalCarlo Viscomi - Fondazione IRCCS Istituto Neurologico Carlo BestaCaroline Van Den Broecke - Ghent University HospitalBoel De Paepe - Ghent University HospitalPeter Lohse - Ludwig-Maximilians-Universität MünchenJean-Jacques Martin - University of AntwerpJoshua G. Jackson - University of Minnesota Medical CenterColin R. Campbell - University of Minnesota Medical CenterLinda J. De Meirleir - College Station Medical CenterMassimo Zeviani - Fondazione IRCCS Istituto Neurologico Carlo BestaSara H. Seneca - College Station Medical CenterWilly Lissens - College Station Medical CenterRudy N. Van Coster - Ghent University Hospital
- Publication Details
- Pediatric research, v 66(3), pp 317-322
- Publisher
- Springer Nature
- Number of pages
- 6
- Grant note
- Kid-AuQuai foundation G.0666.06 / Fund for Scientific Research (FWO) Belgium; FWO
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pharmacology and Physiology
- Web of Science ID
- WOS:000269339800014
- Scopus ID
- 2-s2.0-70350458802
- Other Identifier
- 991021900195004721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Pediatrics