An overview of a cohort of South African patients with mitochondrial disorders.

Journal of Inherited Metabolic Disease
Izelle SmutsFrancois H van der Westhuizen

Abstract

Mitochondrial disorders are frequently encountered inherited diseases characterized by unexplained multisystem involvement with a chronic, intermittent, or progressive nature. The objective of this paper is to describe the profile of patients with mitochondrial disorders in South Africa. Patients with possible mitochondrial disorders were accessed over 10 years. Analyses for respiratory chain and pyruvate dehydrogenase complex enzymes were performed on muscle. A diagnosis of a mitochondrial disorder was accepted only if an enzyme activity was deficient. Sixty-three patients were diagnosed with a mitochondrial disorder, including 40 African, 20 Caucasian, one mixed ancestry, and two Indian patients. The most important findings were the difference between African patients and other ethnicities: respiratory chain enzyme complexes CI+III or CII+III deficiencies were found in 52.5% of African patients, being of statistical significance (p value = 0.0061). They also presented predominantly with myopathy (p value = 0.0018); the male:female ratio was 1:1.2. Twenty-five (62.5%) African patients presented with varying degrees of a myopathy accompanied by a myopathic face, high palate, and scoliosis. Fourteen of these 25 also had ptosis a...Continue Reading

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Citations

Jan 20, 2012·European Journal of Human Genetics : EJHG·Elizna M van der WaltFrancois H van der Westhuizen
Mar 26, 2011·PloS One·Loro L KujjoGloria I Perez
May 15, 2012·Human Mutation·Joanna L ElsonRobert McFarland
Oct 30, 2020·Journal of Clinical Pathology·Surita MeldauGillian Tracy Riordan
Dec 19, 2017·Journal of the Neurological Sciences·Francois H van der WesthuizenMarli Dercksen

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