| Disease | 2-HYDROXYGLUTARIC ACIDURIA (D) |
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| Synonym | D-2-HYDROXYGLUTARIC ACIDURIA; |
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| OMIM | 600721
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 | d-2-hydroxyglutarate dehydrogenase
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| Gene locus |
2q37.3
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| genetests.org |
search search on genetest.org by MIM 600721
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 -
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| Summary | rare autosomal recessive biochemical variant 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
- anemia
- bleeding tendencies, hemorrhages
- blindness, visual loss, visual impairment
- cardiomegaly
- cardiomyopathy
- corpus callosum, agenesis/hypoplasia
- dysmorphism
- hyperpigmentation
- hypotonia
- infantile spasms
- irritability
- macrocephaly (large calvaria, >2 SD for age)
- mental retardation
- metaphyseal dysplasia
- onset, infant
- onset, newborn
- Organic acid, spinal fluid
- Organic acids, plasma
- Organic acids, urine
- peripheral neuropathy
- seizures
- vomiting
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Abnormal Findings in
plasma |
- 2-Hydroxyglutaric acid (D)
Normal: 0.30-0.90 µmol/l
| Significant : 62.00-73.00 µmol/l
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Abnormal Findings in
spinal fluid |
- 2-Hydroxyglutaric acid (D)
Normal: 0.10-0.30 µmol/l
| Significant : -25.00 µmol/l
- gamma-Aminobutyric acid
Normal: 0.00-0.10 µmol/l
| Significant : - increased
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Abnormal Findings in
urine |
- 2-Hydroxyglutaric acid (D)
Normal: 3.00-17.00 mmol/mol creatinine
| Significant : 730.00-1747.00 mmol/mol creatinine
- 2-Oxoglutaric acid
Normal: 50.00-152.00 mmol/mol creatinine
| Significant : - normal/increased
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| Treatment |
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| Picture 127 |
GC-MS spectrum of sylyl esters (triTMS) in a patient with 2-hydroxyglutaric aciduria
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| Picture 126 |
GC-MS spectrum of sylyl esters in a patient with 2-hydroxyglutaric aciduria
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| Literature | There are 22 publications available.
Click here to open the relevant 2-HYDROXYGLUTARIC ACIDURIA (D) publications |
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