Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
Abstract Background L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic
disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH)
gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental
delay, intellectual disability, and other clinical neurological deficits. Case presentation We
describe an index case of the family presented with generalised tonic-clonic seizure,
developmental delay, intellectual disability, and ataxia. Initially, the differential diagnosis …
disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH)
gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental
delay, intellectual disability, and other clinical neurological deficits. Case presentation We
describe an index case of the family presented with generalised tonic-clonic seizure,
developmental delay, intellectual disability, and ataxia. Initially, the differential diagnosis …
[PDF][PDF] Identification of novel L2HGDH mutation in a large consanguineous Pakistani family-a
Abstract Background: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic
disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH)
gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental
delay, intellectual disability, and other clinical neurological deficits. Case presentation: We
describe an index case of the family presented with generalised tonic-clonic seizure,
developmental delay, intellectual disability, and ataxia. Initially, the differential diagnosis …
disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH)
gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental
delay, intellectual disability, and other clinical neurological deficits. Case presentation: We
describe an index case of the family presented with generalised tonic-clonic seizure,
developmental delay, intellectual disability, and ataxia. Initially, the differential diagnosis …
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