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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
General
amino acid inborn error of metabolism
Database Correlations
OMIM 236792
References
OMIM :accession 236792