Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with IVA consisted of diffuse cerebral edema, massive cerebellar hemor-rhage, upward transtentorial herniation, and focal degeneration of clusters of glial cells in white and gray matter. Although abnormal myelination has been described in different aminoacidopathies, the above findings have not been reported previously in IVA.
|Original language||English (US)|
|Number of pages||3|
|State||Published - Jun 1981|
ASJC Scopus subject areas
- Clinical Neurology