| Disease | 2-HYDROXYGLUTARIC ACIDEMIA (L) |
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| Synonym | L-2-HYDROXYGLUTARIC ACIDURIA |
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| OMIM | 236792
Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes
OMIM = Online Medalian Inheritance of Men |
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| Orphanet |
Short summery, also for non professionals on www.orpha.net
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| Enzyme | mutations in the gene encoding a mitochondrial L-2-hydroxyglutarate dehydrogenase
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| Gene locus |
14q22.1
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| genetests.org |
search search on genetest.org by MIM 236792
search search on genetest.org by HYDROXYGLUTARIC+ACIDURIA
Testing - View a listing of laboratories that provide clinical testing for this disorder
Research - View a listing of laboratories that provide testing on a research basis only.
Resources - Vie
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| Summary | rare autosomal recessive biochemical variants of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria |
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| Clinical symptoms |
- alopecia
- ataxia
- behavior, autism or autistic-like
- blindness, visual loss, visual impairment
- dysarthria
- early death
- extrapyramidal signs
- hyperpigmentation
- hypertonia, spasticity
- hypotonia
- macrocephaly (large calvaria, >2 SD for age)
- mental retardation
- onset, infant
- onset, newborn
- Organic acids, urine
- pyramidal signs
- seizures
- speech development, delayed, abnormal
- tremor or twitching
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Abnormal Findings in
plasma |
- 2-Hydroxyglutaric acid (L)
Normal: 0.00-1.50 µmol/l
| Significant : 7.00-61.00 µmol/l
- Lysine
Normal: 52.00-196.00 µmol/l
| Significant : 70.00-380.00 µmol/l
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Abnormal Findings in
spinal fluid |
- 2-Hydroxyglutaric acid (L)
Normal: 0.00-3.00 µmol/l
| Significant : 23.00-474.00 µmol/l
- Lysine
Normal: 10.00-25.00 µmol/l
| Significant : 66.00-89.00 µmol/l
- Protein, total, spinal fluid
Normal: 10.00-30.00 mg/dl
| Significant : - increased
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Abnormal Findings in
urine |
- 2-Hydroxyglutaric acid (L)
Normal: 20.00-46.00 mmol/mol creatinine
| Significant : 50.00-4300.00 mmol/mol creatinine
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| Treatment |
- anticonvulsants
- L-carnitine
- no specific treatment
- riboflavin
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| Picture 125 |
GC-MS spectrum of sylyl esters (triTMS) in a patient with 2-hydroxyglutaric aciduria
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| Literature | There are 20 publications available.
Click here to open the relevant 2-HYDROXYGLUTARIC ACIDEMIA (L) publications |
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Ramedis
Case reports with long term followup | There are 10 patient data available.
Click here to open the list of 2-HYDROXYGLUTARIC ACIDEMIA (L) patients documented in Ramedis database |
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