Malonic Aciduria

Description

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

Clinical Features

Top most frequent phenotypes and symptoms related to Malonic Aciduria

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain
  • Feeding difficulties
  • Cardiomyopathy
  • Vomiting

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Malonic Aciduria Is also known as malonyl-coa decarboxylase 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.

Malonic Aciduria 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 %
MLYCD Gene Sequencing.

By GeneDx (United States).

MLYCD
Specificity
100 %
Genes
100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Methylmalonic aciduria (NGS panel for 15 genes).

By CGC Genetics (Portugal).

SUCLA2, SUCLG1, CD320, MCEE, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, ACSF3, ABCD4, MLYCD, MTR, MTRR, MMUT
Specificity
7 %
Genes
100 %
Methylmalonic Acidemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SUCLA2, SUCLG1, CD320, MCEE, MMAA, MMAB, MMADHC, ACSF3, MLYCD, ALDH6A1, MMUT
Specificity
10 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC16A1, SLC2A2, ACSF3, AGL, FBP1, G6PC, SLC37A4, GALT, ALDOB, GYS2, HMGCL, MLYCD, OXCT1, PC, PCK1, PCK2, PGM1, PHKA2, PHKB, PHKG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SUCLA2, SUCLG1, TCN1, TCN2, AMN, CBS, CD320, MCEE, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, CUBN, ACSF3, SLC46A1, AHCY, FOLR1, CBLIF, GNMT , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

You can get up to 40 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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