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
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
