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Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.

Siqi DingE YajunYucang He
Published in: Acta neurologica Belgica (2024)
L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, autosomal recessive neurometabolic disease, which presents with elevated L-2-hydroxyglutarate acid. Generally, L2HGA appear as slowly progressing central nervous system function deterioration during infancy, and a rapid progression in adulthood is uncommon for the syndrome's classic phenotype.
Keyphrases
  • late onset
  • early onset
  • intellectual disability
  • depressive symptoms
  • case report
  • cerebrospinal fluid
  • weight gain
  • loop mediated isothermal amplification
  • muscular dystrophy
  • early life
  • physical activity
  • quantum dots