Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency
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چکیده
منابع مشابه
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants had reduced glucose tracer uptake and incr...
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Key-words Disease name and synomyms Diagnosis criteria/definition Differential diagnosis Incidence Clinical description Treatment Etiology Diagnostic methods Genetic counseling and prenatal diagnosis Unresolved questions and outlook References
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Glutaric acidemia type 1 is an inherited metabolic disorder which can cause macrocephaly, muscular rigidity, spastic paralysis and other progressive movement disorders in humans. The defects in glutaryl-CoA dehydrogenase (GCDH) associated with this disease are thought to increase holoenzyme instability and reduce cofactor binding. Here, the first structural analysis of a GCDH enzyme in the abse...
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ژورنال
عنوان ژورنال: Brain
سال: 2007
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awm058