Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

ABSTRACT:

Background

Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining the neurological and neurocognitive outcomes of patients diagnosed with IVA following clinical manifestation.

Methods

Retrospective data on 21 children and adults with symptomatic IVA diagnosed from 1976 to 1999 were analyzed for outcome determinants including age at diagnosis and number of catabolic episodes. Sixteen of 21 patients were evaluated cross-sectionally focusing on the neurological and neurocognitive status. Additionally, 155 cases of patients with IVA published in the int

SUBMITTER: Grunert SC 

PROVIDER: S-EPMC3292949 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature