A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L‐2 Hydroxyglutaric Aciduria
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12967
Abstract: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder that is characterized by cerebellar ataxia, intellectual decline, leukoencephalopathy, and elevation of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The diagnosis is based on… read more here.
Keywords: chronic progressive; case; pancerebellar syndrome; progressive pancerebellar ... See more keywords
Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy
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DOI: 10.1007/s10072-021-05555-x
Abstract: In this study, we performed analysis of brainstem reflexes and movement disorders using surface polymyogram in L-2-hydroxyglutaric aciduria (L2HGA). We also reviewed all cases in the literature with detailed clinical and radiological description to analyze… read more here.
Keywords: tremor; postural tremor; cerebellar atrophy; hydroxyglutaric aciduria ... See more keywords
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis
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DOI: 10.1007/s11011-018-0354-8
Abstract: L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive disorder that is caused by deficiency of 2-hydroxyglutarate dehydrogenase. Pathophysiology of brain damage is poorly understood. In recent years, it was proposed that oxidative stress was elevated and… read more here.
Keywords: homeostasis; stress; hydroxyglutaric aciduria; l2hga patients ... See more keywords
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
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DOI: 10.1007/s11011-021-00832-2
Abstract: BACKGROUND L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA includes intellectual disability, cerebellar ataxia,… read more here.
Keywords: family; pakistani family; l2hgdh; hydroxyglutaric aciduria ... See more keywords
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis.
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DOI: 10.1097/pec.0000000000001029
Abstract: To the Editors: L -2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive genetic disease. Clinically, it shows progressive psychomotor developmental delay and cerebral symptoms. Macrocephaly is a finding that must alert the clinicians to the… read more here.
Keywords: aciduria; case presented; aciduria case; acute bacterial ... See more keywords
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria
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DOI: 10.1212/wnl.0000000000006362
Abstract: A 9-year-old girl presented to us with insidious onset difficulty in walking, recurrent falls, anxiety, and poor scholastic performance from age 5 years. Her MRI findings (figure) were classic of L-2-hydroxyglutaric aciduria (L2-HGA). However, similar… read more here.
Keywords: aciduria; neuroimages imaging; imaging metabolic; hydroxyglutaric aciduria ... See more keywords