Methylmalonic Acidemia Due To Methylmalonyl-coa Epimerase Deficiency

Description

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

Clinical Features

Top most frequent phenotypes and symptoms related to Methylmalonic Acidemia Due To Methylmalonyl-coa Epimerase Deficiency

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus
  • Vomiting
  • Diarrhea
  • Dystonia
  • Acidosis
  • Gastroesophageal reflux

And another 7 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

Methylmalonic Acidemia Due To Methylmalonyl-coa Epimerase Deficiency Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency, methylmalonyl-coa racemase deficiency, methylmalonic aciduria due to methylmalonyl-coa racemase deficiency, methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency, mcee deficie.

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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Methylmalonic Acidemia Due To Methylmalonyl-coa Epimerase Deficiency 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 %
MCEE Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCEE
Specificity
100 %
Genes
100 %
MCEE Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCEE
Specificity
100 %
Genes
100 %
MCEE Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCEE
Specificity
100 %
Genes
100 %
MCEE Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MCEE
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 %
Epimerase Deficiency - MCEE Sequencing.

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

MCEE
Specificity
100 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %

We have 33 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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