Cerebral energy metabolism in isovaleric acidaemia.
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.
Lorek
A K
AK
Department of Paediatrics, University College London School of Medicine.
Penrice
J M
JM
Cady
E B
EB
Leonard
J V
JV
Wyatt
J S
JS
Iles
R A
RA
Burns
S P
SP
Reynolds
E O
EO
D001921:Brain / Q000378:metabolism*; D001927:Brain Diseases / Q000209:etiology / Q000378:metabolism*; D004734:Energy Metabolism; D005260:Female; D006801:Humans; D006859:Hydrogen; D007223:Infant; D007231:Infant, Newborn; D050769:Isovaleryl-CoA Dehydrogenase; D009682:Magnetic Resonance Spectroscopy; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism* / Q000628:therapy; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010759:Phosphorus Isotopes; D016896:Treatment Outcome
D010759:Phosphorus Isotopes; D006859:Hydrogen; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase