Pediatric Neurology
Volume 36, Issue 4 , Pages 264-267 , April 2007

Neuroimage Findings in 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency

  • María R. Cazorla, MD

      Affiliations

    • Neuropediatric Unit, Hospital Virgen de la Salud, Toledo, Spain
    • Corresponding Author InformationCommunications should be addressed to: Dr. Cazorla; Neuropediatric Unit; Service of Pediatrics; Hospital Virgen de la Salud; Avda. Barber, 30; 45004 Toledo, Spain.
    • ,
  • Alfonso Verdú, MD, PhD

      Affiliations

    • Neuropediatric Unit, Hospital Virgen de la Salud, Toledo, Spain
    • ,
  • Celia Pérez-Cerdá, PhD

      Affiliations

    • Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, Spain
    • ,
  • Antonia Ribes, PhD

      Affiliations

    • Institut de Bioquímica Clínica, Corporaciò Sanitària Clínic, Barcelona, Spain.

Received 22 August 2006 ,Accepted 27 November 2006.

References 

  1. Zschocke J, Ruiter JPN, Brand J, et al. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res. 2000;48:852–855
  2. Ofman R, Ruiter JPN, Feenstra M, et al. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet. 2003;72:1300–1307
  3. Pérez-Cerdá C, Garcia-Villoria J, Ofman R, et al. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: An X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005;58:488–491
  4. Ensenauer R, Niederhoff H, Ruiter JPN, et al. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. Ann Neurol. 2002;51:656–659
  5. Olpin SE, Pollitt RJ, McMenamin J, et al. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year old man. J Inherit Metab Dis. 2002;25:477–482
  6. Sutton VR, Brien EO, Clark GD, Kim JY, Wanders JA. 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2003;26:69–71
  7. Poll-The BT, Wanders R, Ruiter JPN, et al. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: Differential diagnosis with hypoxic-ischemic brain diseases. Mol Genet Metab. 2004;81:295–299
  8. Sass JO, Forstner R, Sperl W. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Impaired catabolism of isoleucine presenting as a neurodegenerative disease. Brain Dev. 2004;26:12–24
  9. Campistol J. Aproximación al diagnóstico de los errores congénitos del metabolismo por la neuroimagen. Rev Neurol. 1999;28:16–23
  10. Brismar J, Ozand PT. CT and MR of the brain in the diagnosis of organic acidemias, experience from 107 patients. Brain Dev. 1994;16(Suppl):104–124
  11. Ozand PT, Rashed M, Gascon GG, et al. 3-Ketothiolase deficiency: A review and four new patients with neurologic symptoms. Brain Dev. 1994;16(Suppl):38–45
  12. Søvik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism. J Inherit Metab Dis. 1993;16:46–54

PII: S0887-8994(06)00717-X

doi: 10.1016/j.pediatrneurol.2006.11.014

Pediatric Neurology
Volume 36, Issue 4 , Pages 264-267 , April 2007

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