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