Posts Categorized: Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION



Mitochondrial aspartyl-tRNA synthetase

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS.

Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I, Smeitink JA, Florentz […]



New IEM: Mitochondrial Phosphate-Carrier Deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 21: MEMBRANE TRANSPORT DISORDERS.

Mitochondrial Phosphate-Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, and Wolfgang Sperl The American Journal of Human Genetics, volume 80 (2007)   This group describes two patients from the same […]



The benefits of screening for MCAD

Posted by & filed under Newborn screening, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase defi ciency in Australia: a cohort study Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh Lancet 2007; 369: 37–42 This large australian study compared a population of children who were screened for MCAD and an unscreened population. […]



Metabolic autopsy

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

J Pediatr. 2006 Jun;148(6):779-83. The value of the metabolic autopsy in the pediatric hospital setting. Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.     In this review of 23 cases performed at the Children’s Hospital of Philadelphia, a metabolic autopsy permitted the identification of an undiagnosed metabolic disease in 18% of the […]



Heterogeneity of SCADD

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 12: LIPIDS.

JAMA. 2006 Aug 23;296(8):943-52. write my assignment Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA. This study of 31 patients from the Netherlands is the largest study of SCADD. It highlights the clinical heterogeneity, with […]



DCA for congenital lactic acidosis

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. 2006 May;117(5):1519-31 Stacpoole PW et al. This landmark study is the first to evaluate DCA in a controlled trial for children with mitochondrial disorders. Although there was no improvement in neurological outcome, the drug was proven to be safe. Perhaps earlier […]



Ethylmalonic encephalopathy

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 2006 Apr;43(4):340-6. Tiranti V et al. In this article, mutations in ETHE1 were identified in 29 patients with typical ethylmalonic encephalopathy, while no ETHE1 mutations were identified in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria. For more information on mitochondrial disorders, […]



Mitochondrial medicine course

Posted by & filed under Courses, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Orphan Europe Academy and the Nijmegen Centre of Mitochondrial Disorders organise the first course on Mitochondrial Medicine. Location: Nijmegen Medical Centre, Netherlands Date: 28-30 June 2006 For more information, visit: http://www.orphan-europe-academy.com/course.php?courseID=12&topic=synopsis Thank you very much in advance for your contributions to this blog. Philippe Campeau, MD Resident in Medical Genetics at McGill University OMMBID Blog […]



Coenzyme Q10 deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

The first defect in coenzyme Q10 (ubiquinone) biosynthesis has been attributed to mutations in COQ2, encoding Para-Hydroxybenzoate-Polyprenyl Transferase. Patients with primary CoQ10 deficiency can present with myopathy, cerebellar involvement, generalized encephalopathy, and/or renal involvement. Analysis of respiratory chain enzyme activities reveal normal levels of the complexes taken individually, but low levels of complexes I+III and […]