title: Lactic acidosis in a newborn with adrenal calcifications.
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.
authors: Department of Neonatology, Ghent University Hospital, Ghent 9000, Belgium.
authors: Alexandra
authors: A
authors: Zecic
authors: Joél E
authors: JE
authors: Smet
authors: Claudine M
authors: CM
authors: De Praeter
authors: Piet
authors: P
authors: Vanhaesebrouck
authors: Carlo
authors: C
authors: Viscomi
authors: Caroline
authors: C
authors: Van Den Broecke
authors: Boel
authors: B
authors: De Paepe
authors: Peter
authors: P
authors: Lohse
authors: Jean-Jacques
authors: JJ
authors: Martin
authors: Joshua G
authors: JG
authors: Jackson
authors: Colin R
authors: CR
authors: Campbell
authors: Linda J
authors: LJ
authors: De Meirleir
authors: Massimo
authors: M
authors: Zeviani
authors: Sara H
authors: SH
authors: Seneca
authors: Willy
authors: W
authors: Lissens
authors: Rudy N
authors: RN
authors: Van Coster
mesh_terms: D000140:Acidosis, Lactic / Q000151:congenital / Q000378:metabolism / Q000473:pathology; D000311:Adrenal Glands / Q000378:metabolism / Q000473:pathology*; D002114:Calcinosis / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism; D003576:Electron Transport Complex IV; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn / Q000378:metabolism*; D008099:Liver / Q000378:metabolism; D018485:Muscle Fibers, Skeletal / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D021122:Protein Subunits / Q000378:metabolism
chemical_list: D045222:Electron Transport Chain Complex Proteins; D021122:Protein Subunits; D003576:Electron Transport Complex IV