Pediatric Neurology
Volume 27, Issue 2 , Pages 136-137 , August 2002

A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency

  • Rachel Straussberg, MD

      Affiliations

    • Neurogenetic Clinic; Schneider Children’s Medical Center of Israel; Petah Tikva and Sackler School of Medicine; Tel Aviv University; Tel Aviv, Israel
    • Corresponding Author InformationCommunications should be addressed to: Dr. Straussberg; Neurogenetic Clinic; Schneider Children’s Medical Center of Israel; Petach Tikvah, Israel.
    • ,
  • Arnold W Strauss, MD

      Affiliations

    • Department of Pediatrics; Vanderbilt University School of Medicine; Nashville, Tennessee, USA

Received 2 October 2001 ,Accepted 21 February 2002.

References 

  1. Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS. Hypoglycemia, hypotonia and cardiomyopathy (The evolving clinical picture of long chain acyl-coA dehydrogenase deficiency). Pediatrics. 1991;87:328–333
  2. Largilliere C, Vianey-Saban C, Fontaine M, Bertrand C, Kacet N, Fainiaux JP. Mitochondrial very long chain acyl-coA dehydrogenase deficiency—a new disorder of fatty acid oxidation. Arch Dis Child. 1995;73:F103–105
  3. Mathur A, Sims HF, Gopalakrishnan D, et al.  Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999;99:1337–1343
  4. Strausssberg R, Harel L, Varsano I, Elpeleg ON, Shamir R, Amir J. Recurrent myoglobinuria as a manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. Pediatrics. 1997;99:894–896
  5. Smelt AHM, Poorthuis BJHM, Onkenhout W, et al.  Very long chain acyl co-A dehydrogenase deficiency with adult onset. Ann Neurol. 1998;43:540–544
  6. Merinero B, Pascual Pascual SI, Perez-Cerda C, et al.  Adolescent myopathic presentation in two sisters with very long chain acyl co-A dehydrogenase deficiency. J Inherit Metab Dis. 1999;22:802–810
  7. Pons R, Cavadini P, Baratta S, et al.  Clinical and molecular heterogeneity in very long chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 2000;22:98–105
  8. Andresen BS, Olpin S, Poorthuis BJHM, et al.  Clear correlation of genotype with disease phenotype in very long chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64:479–494
  9. Kim JJP, Wang M, Paschke R. Crystal structures of medium chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate. Proc Natl Acad Sci USA. 1993;90:7523–7527
  10. Matsubara Y, Indo Y, Naito E, et al.  Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A and isovaleryl-coenzyme A dehydrogenases. J Biol Chem. 1989;264:16321–16331

PII: S0887-8994(02)00404-6

Pediatric Neurology
Volume 27, Issue 2 , Pages 136-137 , August 2002

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