منابع مشابه
L-2-Hydroxyglutaric aciduria: a case report.
INTRODUCTION L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consist of mental deterioration, ataxia and motor deficits. CASE OUTLINE The patient is a 16-year-old girl, the fi...
متن کاملDisease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.
BACKGROUND D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and the combined D/L-2-hydroxyglutaric aciduria (D/L-2-HGA) are poorly understood organic acidurias. To investigate the usefulness of cultured human skin fibroblasts for both diagnostic and research purposes, we measured disease-related metabolites in the cell culture medium. METHODS We measured D-2-hyd...
متن کاملL-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.
BACKGROUND l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published. OBJECTIVE To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric aciduria. DESIGN Case report...
متن کاملWriter’s cramp as a presentation of L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom presented with writer's cramp followed by dystonia of the other hand. An elevated plasma lysine, high...
متن کاملSpinal canal stenosis in L-2-hydroxyglutaric aciduria.
We describe 2 brothers with L-2-hydroxyglutaric aciduria who developed severe spastic tetraparesis in their 30s. They also had an underlying condition of high-grade cervical spinal canal stenosis diagnosed by magnetic resonance imaging. They were operated on to decompress the spine, and the preexisting gait disturbances slowly diminished after the decompression. Since most people with L-2-hydro...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2005
ISSN: 0003-9942
DOI: 10.1001/archneur.62.4.666