Dimethylglycine Dehydrogenase Deficiency

Description

Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.

Clinical Features

Phenotypes and symptoms related to Dimethylglycine Dehydrogenase Deficiency

  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Elevated serum creatine phosphokinase
  • Increased muscle fatiguability
  • Body odor
  • Abnormal enzyme/coenzyme activity
  • Fish odor

Incidence and onset information

— Based on the latest data available there are 1 published cases of DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY in Europe.
No data available about the known clinical features onset.

Alternative names

Dimethylglycine Dehydrogenase Deficiency Is also known as dmgdh deficiency, dmg 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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Dimethylglycine Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
Dimethylglycine Dehydrogenase Deficiency via DMGDH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DMGDH
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

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

RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)

View the complete list with 156 more genes
Specificity
1 %
Genes
100 %
Dimethylglycine dehydrogenase deficiency.

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

DMGDH
Specificity
100 %
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 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)

View the complete list with 476 more genes
Specificity
1 %
Genes
100 %
DMGDH.

By Fulgent Genetics Fulgent Genetics (United States).

DMGDH
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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