Combined Malonic And Methylmalonic Acidemia

Description

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Malonic And Methylmalonic Acidemia

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Dystonia
  • Pneumonia
  • Acidosis

And another 14 symptoms. If you need more information about this disease we can help you.

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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

Combined Malonic And Methylmalonic Acidemia Is also known as combined malonic and methylmalonic aciduria, cmamma.

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 Malonic And Methylmalonic Acidemia 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 %
ACSF3 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACSF3
Specificity
100 %
Genes
100 %
ACSF3 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACSF3
Specificity
100 %
Genes
100 %
ACSF3 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACSF3
Specificity
100 %
Genes
100 %
ACSF3 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACSF3
Specificity
100 %
Genes
100 %
ACSF3 Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACSF3
Specificity
100 %
Genes
100 %
Methylmalonic Acidemia Sequencing NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SUCLA2, TCN1, TCN2, CBS, CD320, MCEE, MMAA, MMAB, ACSF3, CBLIF, IVD, MTHFR, MTR
Specificity
8 %
Genes
100 %
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SUCLA2, SUCLG1, TCN1, TCN2, AMN, CBS, MCEE, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, CUBN, ACSF3, FCGR2A, CBLIF, HCFC1, ABCD4, MAT1A, MTHFR , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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