D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum
نویسندگان
چکیده
منابع مشابه
Disease-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: 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...
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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...
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ژورنال
عنوان ژورنال: Cureus
سال: 2019
ISSN: 2168-8184
DOI: 10.7759/cureus.6157