2-Hydroxyglutaric aciduria

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2-Hydroxyglutaric aciduria
Alpha-Hydroxyglutaric acid

2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of

autosomal dominant.[1]

Presentation

The signs/symptoms of this condition are consistent with the following:[2]

Cause

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

Mutation in several genes can lead to different types of 2-hydroxyglutaric aciduria. For example, the D2HGDH and L2HGDH genes provide instructions for making enzymes that are found in mitochondria - in which these enzymes break down D-2-hydroxyglutarate and L-2-hydroxyglutarate, respectively, as a part of normal reaction series that generate energy for cell activities. Any mutations occur in either of these genes would interrupt the functional enzymes and allow both 2-hydroxyglutarates to accumulate in cells, which cause 2-hydroxyglutaric aciduria type I. Moreover, it is known that type II for L-2-hydroxyglutaric aciduria and a mixed type for both 2-hydroxyglutarates come from mutations in IDH2 gene and SLC25A1 gene, respectively.[3][4]

Diagnosis

Classification

2-hydroxyglutaric aciduria is an

organic aciduria
, and because of the stereoisomeric property of 2-hydroxyglutarate different variants of this disorder are distinguished:

L-2-hydroxyglutaric aciduria

The L-2 form is more common, severe, and mainly affects the

mental retardation, and psychomotor regression.[5]

It is associated with

metabolite repair enzyme that oxidizes L-2-hydroxyglutarate back to 2-oxoglutarate.[7]

D-2-hydroxyglutaric aciduria

The D2 form is rare, with symptoms including

blindness.[8] It is caused by recessive mutations in D2HGDH[9] (type I) or by dominant gain-of-function mutations in IDH2[10]
(type II).

Combined D-2- and L-2-hydroxyglutaric aciduria

The combined form is characterized by severe early-onset epileptic

SLC25A1 encoding the mitochondrial citrate carrier.[12]

Treatment

The treatment of 2-Hydroxyglutaric aciduria is based on seizure control, the prognosis depends on how severe the condition is.[13]

See also

References

  1. ^ Reference, Genetics Home. "2-hydroxyglutaric aciduria". Genetics Home Reference. Retrieved 25 January 2017.
  2. ^ "L-2-hydroxyglutaric aciduria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 25 January 2017.
  3. ^ "2-hydroxyglutaric aciduria: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-07-17.
  4. PMID 22391998
    .
  5. PMID 15824270
    .
  6. PMID 15385440
    .
  7. S2CID 27702186
    .
  8. S2CID 19395651
    .
  9. PMID 15609246
    .
  10. S2CID 206527781
    .
  11. PMID 10963100
    .
  12. PMID 23561848
    .
  13. ^ "D-2-hydroxyglutaric aciduria". OrphaNet: The portal for rare diseases and orphan drugs.

External links

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