L-2-hydroxyglutaricaciduria

Epidemiology

• rare (< 100 patients described)

Genetics

• autosomal recessive disorder
• associated with defects in L2HGDH gene

Clinical manifestations

• mild psychomotor delay in the 1st years of life, followed by
  • progressive cerebellar ataxia
  • dysarthria
  • moderate to severe mental retardation

Laboratory

• excess of L-2-hydroxyglutaric acid in urine, blood & cerebrospinal fluid

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/236792