2-Hydroxyglutaric aciduria

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2-Hydroxyglutaric aciduria
Alpha-hydroxyglutaric acid.png
Alpha-Hydroxyglutaric acid
OMIM 600721 236792
DiseasesDB 34515 34514

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2-Hydroxyglutaric aciduria

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2-hydroxyglutaric aciduria is a rare, autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid.

Forms

2-hydroxyglutaric aciduria is an organic aciduria, and has two distinct isometric variants:

L-2-hydroxyglutaric aciduria

The L-2 form is more common, severe, and mainly affects the central nervous system. The basal ganglia are affected, and cystic cavitations in the white matter of the brain are common, beginning in infancy. This form is chronic, with early symptoms such as hypotonia, tremors, and epilepsy declining into spongiform leukoencephalopathy, muscular choreodystonia, mental retardation, and psychomotor regression.[1]

It is associated with L2HGDH.[2]

D-2-hydroxyglutaric aciduria

The D2 form is rare, with symptoms including macrocephaly, cardiomyopathy, mental retardation, hypotonia, and cortical blindness.[3]

Both forms of 2-Hydroxyglutaric aciduria have an autosomal recessive pattern of inheritance.

See also

References

  1. Seijo-Martinez M, Navarro C, Castro del Rio M, Vila O, Puig M, Ribes A, Butron M (2005). "L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings". Arch Neurol. 62 (4): 666–670. doi:10.1001/archneur.62.4.666. PMID 15824270.
  2. Topçu M, Jobard F, Halliez S, et al (November 2004). "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1". Hum. Mol. Genet. 13 (22): 2803–11. doi:10.1093/hmg/ddh300. PMID 15385440.
  3. Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L (1995). "D-2-hydroxyglutaric aciduria". J Child Neurol. 10 (2): 137–142. PMID 7782605.

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