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Type I glutaric aciduria, part 2: A model of acute striatal necrosis
Author(s) -
Strauss Kevin A.,
Morton D. Holmes
Publication year - 2003
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.20008
Subject(s) - basal ganglia , striatum , glutaric acid , necrosis , hyperintensity , white matter , medicine , ischemia , hypoxia (environmental) , pathophysiology , pathology , magnetic resonance imaging , neuroscience , central nervous system , endocrinology , cardiology , psychology , biology , chemistry , biochemistry , oxygen , organic chemistry , radiology , dopamine
Type I glutaric aciduria (GA1) is an inborn error of organic acid metabolism that is associated with acute neurological crises, typically precipitated by an infectious illness. The neurological crisis coincides with swelling, metabolic depression, and necrosis of basal ganglia gray matter, especially the putamina and can be visualized as focal, stroke‐like, signal hyperintensity on MRI. Here we focus on the stroke‐like nature of striatal necrosis and its similarity to brain injury that occurs in infants after hypoxia‐ischemia or systemic intoxication with 3‐nitropropionic acid (NPA). These conditions share several features including abrupt onset, preferential effect in the striatum and age‐specific susceptibility. The pathophysiology of the conditions is reviewed and a model proposed herein. We encourage investigators to test this model in an appropriate experimental system. © 2003 Wiley‐Liss, Inc.