Oxoglutaric Aciduria

Description

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

Clinical Features

Top most frequent phenotypes and symptoms related to Oxoglutaric Aciduria

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Spasticity
  • Skeletal muscle atrophy
  • Hydrocephalus
  • Hypertonia
  • Acidosis

And another 10 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.

Alternative names

Oxoglutaric Aciduria Is also known as 2-ketoglutarate dehydrogenase deficiency, alpha-kgd deficiency, oxoglutaric aciduria, alpha-ketoglutarate dehydrogenase deficiency.

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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Oxoglutaric Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Alpha-ketoglutarate dehydrogenase deficiency.

By Centogene AG - the Rare Disease Company (Germany).

OGDH
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH (Germany).

RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...)

View the complete list with 260 more genes
Specificity
1 %
Genes
100 %
Single gene testing OGDH.

By CeGaT GmbH (Germany).

OGDH
Specificity
100 %
Genes
100 %
Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel.

By Invitae (United States).

SLC25A19, DLD, OGDH
Specificity
34 %
Genes
100 %
OGDH.

By Fulgent Genetics Fulgent Genetics (United States).

OGDH
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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