D,l-2-hydroxyglutaric Aciduria

Description

D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

D,l-2-hydroxyglutaric Aciduria Is also known as d,l-2-hga, combined d-2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria, d,l-2-hydroxyglutaric acidemia, combined d-2-hydroxyglutaric acidemia and l-2-hydroxyglutaric acidemia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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D,l-2-hydroxyglutaric Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
D-2- and L-2-Hydroxyglutaric Aciduria Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC25A1, L2HGDH, D2HGDH
Specificity
34 %
Genes
100 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Autosomal Recessive Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
SLC25A1 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

SLC25A1
Specificity
100 %
Genes
100 %
D-2 and L-2 Hydroxyglutaric Aciduria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC25A1, L2HGDH, D2HGDH, IDH2
Specificity
25 %
Genes
100 %
SLC25A1 Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago (United States).

SLC25A1
Specificity
100 %
Genes
100 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC25A1, CD320, MCEE, MMAA, MMAB, L2HGDH, MMACHC, MMADHC, DBT, ACSF3, D2HGDH, DLD, ETFA, ETFB, ETFDH, GCDH, HLCS, IDH2, IVD, MCCC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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