Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

01 May 1998

Sodium dichloroacetate treatment of children with mitochondrial encephalomyopathies

Jiri Zeman, Hana Houstkova, Zlata Dudkova, V. Konr‡adova, Leona Stratilova, Josef Houstek, Hana Hansi’kova, Stanislav Kmoch

Med Sci Monit 1998; 4(3): CR436-442 :: ID: 502418


Mitochondrial encephalomyopathies due to disorders of the respiratory chain enzymes ATP-synthase and the pyruvate dehydrogenase (PDH) complex represent a group of serious pediatric diseases. Their clinical manifestation is rather heterogeneous and often includes failure to thrive, encephalopathy, myopathy, hepatopathy, hypertrophic cardiomyopathy and lactic acidosis. During the period 1993-1996 mitochondrial encephalomyopathy was diagnosed in 34 children using biochemical and molecular biology approaches. Intrauterine growth retardation and failure to thrive were usually the first clinical symptoms. Developmental delay started in most children during infancy, followed by developmental regress in the second year of life. Eight (8) of the children presented with classical Leigh syndrome, 17 had encephalomyopathy with lactic acidosis, 4 had hypertrophic cardiomyopathy with encephalomyopathy, one girl had encephalomyopathy and sideroblastic anemia, and one newborn died from fatal lactate acidosis; 3 children with their first symptoms during the preschool period had isolated myopathy. Cytochrome c oxidase (COX) deficiency was found in 20 children, a low activity of NADH dehydrogenase was found in 1 child, succinate dehydrogenase defect in 2 children, ATP synthase defect in 4 children, a defect of PDH complex in 5 children and a combined defect of COX and NADH dehydrogenase in 2 children. In 4 children a point mutation of mtDNA was found (1x 8334 MERRF mutation, 3x 8993 NARP mutation); none of the patients had large-scale deletions of mtDNA. Alanine, lactate and the lactate/pyruvate ratio were elevated in blood and CSF from most children. A mild dicarboxylic aciduria, an increased excretion of the Krebs cycle intermediates and an elevated ratio of acylcarnitines to free carnitine in urine were frequently found. The prognosis of children with mitochondrial encephalomyopathy is unfavorable. In an attempt to lower lactic acidosis 7 children were treated with sodium dichloroacetate (12-80 mg/kg/day). As a result the blood lactate levels decreased significantly, but no significant improvement in the clinical course of patients was noticed. The only exception was a slight improvement of physical performance in a boy with myopathy and moderate COX deficiency.

Keywords: oxidative phosphorylation (OXPHOS), pyruvate dehydrogenase (PDH), mitochondrial encephalomyopathy, lactic acidosis, sodium dichloroacetate

Add Comment 0 Comments

531 1


01 June 2023 : Editorial  

Editorial: Infectious Disease Surveillance Using Artificial Intelligence (AI) and its Role in Epidemic and Pandemic Preparedness

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.941209

Med Sci Monit 2023; 29:e941209

In Press

01 Jun 2023 : Clinical Research  

Root Canal Numbers and Configurations in 1080 Permanent Canine Teeth in 270 Saudi Subjects Using Cone-Beam ...

Med Sci Monit In Press; DOI: 10.12659/MSM.940472  

01 Jun 2023 : Clinical Research  

Internal Orifice Alloy Closure: A New Procedure for Treatment of Perianal Fistulizing Crohn’s Disease

Med Sci Monit In Press; DOI: 10.12659/MSM.940873  

01 Jun 2023 : Clinical Research  

Effectiveness of Needle Aspiration versus Surgical Excision for Symptomatic Synovial Cysts of the Hip: A Si...

Med Sci Monit In Press; DOI: 10.12659/MSM.940187  

01 Jun 2023 : Clinical Research  

Influence of Insulin Resistance on Diabetes Nephropathy

Med Sci Monit In Press; DOI: 10.12659/MSM.939482  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788


30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379

08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750