Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad

Description

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Clinical Features

Top most frequent phenotypes and symptoms related to Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm
  • Muscle weakness
  • Feeding difficulties
  • Hepatomegaly
  • Macrocephaly
  • Ventriculomegaly

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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

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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Combined D-2- And L-2-hydroxyglutaric Aciduria; D2l2ad 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 OMIM Rare Disease Search Engine

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