Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency

Description

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

Clinical Features

Top most frequent phenotypes and symptoms related to Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Hepatomegaly
  • Fever

And another 47 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

Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency, methylmalonic aciduria, mut type.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase 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 %
MUT Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %
Methylmalonic Acidemia Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories (United States).

MMAA, MMAB, MMUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MMAA, MMAB, MMUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Panel Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMAA, MMAB, MMUT
Specificity
34 %
Genes
100 %
MUT Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %
MUT Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %
MUT Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %

We have 74 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TYPICAL NEMALINE MYOPATHY STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more