MRI findings in succinic semialdehyde dehydrogenase deficiency

Neuropediatrics. 2000 Feb;31(1):45-6. doi: 10.1055/s-2000-15298.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aldehyde Oxidoreductases / deficiency*
  • Cerebellar Nuclei / pathology
  • Child
  • Consanguinity
  • Globus Pallidus / pathology
  • Humans
  • Hydroxybutyrates / urine
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Succinate-Semialdehyde Dehydrogenase

Substances

  • Hydroxybutyrates
  • 4-hydroxybutyric acid
  • Aldehyde Oxidoreductases
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase