Cerebral energy metabolism in isovaleric acidaemia.

Autor: Lorek AK; Department of Paediatrics, University College London School of Medicine., Penrice JM, Cady EB, Leonard JV, Wyatt JS, Iles RA, Burns SP, Reynolds EO
Jazyk: angličtina
Zdroj: Archives of disease in childhood. Fetal and neonatal edition [Arch Dis Child Fetal Neonatal Ed] 1996 May; Vol. 74 (3), pp. F211-3.
DOI: 10.1136/fn.74.3.f211
Abstrakt: 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.
Databáze: MEDLINE