Title of article
Complex 1 Respiratory Chain Deficiency Presenting with Severe Dilated Cardiomyopathy and Severe Renal Tubular Acidosis
Author/Authors
MOHAMAD, SARAR Saad Specialist Hospital - Department of Pediatrics, Saudi Arabia , AL-ZAGHAL, AHMAD Saad Specialist Hospital - Department of Pediatrics, Saudi Arabia , EL-MELEGY, EBTESSAM National Institute of Neuromotor System - Department of Neuro-Pediatrics, Egypt
From page
359
To page
361
Abstract
Mitochondrial disorders cause defects in oxidative phos-phorylation. Organs such as the brain, heart and skeletal muscle are markedly energy dependent and particularly vulnerable to defects in energy metabolism. We report on an 18- month-old Saudi boy presented with heart failure, dysmorphic features and generalized hypotonia. Blood gas and urinalysis showed renal tubular acidosis. Echocardiogram revealed dilated left ventricle with grade I mitral regurgitation mild tricuspid regurgitation. Muscle biopsy confirmed low NADH Q oxyereductase (complex 1) consistent with mitochondrial respiratory chain disorder.
Keywords
Respiratory chain deficiency
Journal title
The Medical Journal of Cairo University
Journal title
The Medical Journal of Cairo University
Record number
2538424
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