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Research Article
Cerebral energy metabolism in isovaleric acidaemia.
  1. A. K. Lorek,
  2. J. M. Penrice,
  3. E. B. Cady,
  4. J. V. Leonard,
  5. J. S. Wyatt,
  6. R. A. Iles,
  7. S. P. Burns,
  8. E. O. Reynolds
  1. Department of Paediatrics, University College London School of Medicine.

    Abstract

    A newborn infant with an acute metabolic encephalopathy caused by isovaleric acidaemia had severe impairment of cerebral energy metabolism. This was detected by phosphorus and proton magnetic resonance spectroscopy. After treatment she made excellent clinical recovery, her spectroscopic abnormalities resolved, and she was neurologically normal at the age of 1 year.

    https://doi.org/10.1136/fn.74.3.F211

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