MCID: MTH025
MIFTS: 14

Methylmalonyl-Coenzyme a Mutase Deficiency

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Methylmalonyl-Coenzyme a Mutase Deficiency

MalaCards integrated aliases for Methylmalonyl-Coenzyme a Mutase Deficiency:

Name: Methylmalonyl-Coenzyme a Mutase Deficiency 53 73
Methylmalonyl Coenzyme a Mutase 13
Mcm Deficiency 53

Classifications:



External Ids:

UMLS 73 C2931536

Summaries for Methylmalonyl-Coenzyme a Mutase Deficiency

NIH Rare Diseases : 53 Methylmalonyl-Coenzyme A mutase deficiency (MCM deficiency) is a type of methylmalonic acidemia caused by having too little methylmalonyl-CoA mutase. Methylmalonyl-CoA mutase (MCM) is one of the special proteins (enzymes) needed to breakdown certain amino acids found in the food we eat. It is needed to breakdown certain fats too. When the amino acids and fats are not broken down normally, substances which are harmful to the body (including methylmalonic acid) build up and can damage the nervous system, kidneys and other organs. Symptoms of MCM deficiency usually begin in infancy or early childhood and may include tiredness (fatigue), vomiting, dehydration, weak muscle tone (hypotonia), fever, breathing trouble, frequent illnesses and infections, and increased bleeding and bruising. Long term complications include developmental delay, intellectual disability, enlarged liver (hepatomegaly), chronic kidney disease, inflammation of the pancreas (pancreatitis), and in severe cases coma and death. Methylmalonyl-Coenzyme A mutase deficiency (MCM deficiency) is caused by changes or mutations in the MUT gene which can cause no enzyme to be produced (MUT0) or less than normal amounts of the enzyme to be made (MUT-). The more working enzyme that is made, the less severe the symptoms will be. MCM deficiency is inherited in an autosomal recessive manner. Diagnosis is made based on symptoms, special blood tests and genetic testing. Unlike some types of methylmalonic acidurias, B12 supplements are not helpful. Instead treatment includes a special diet low in proteins containing the amino acids isoleucine, methionine, threonine and valine and certain fats but high in calories. Other symptoms are treated as needed.

MalaCards based summary : Methylmalonyl-Coenzyme a Mutase Deficiency, also known as methylmalonyl coenzyme a mutase, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency. An important gene associated with Methylmalonyl-Coenzyme a Mutase Deficiency is MMUT (Methylmalonyl-CoA Mutase). Affiliated tissues include testes, liver and kidney.

Related Diseases for Methylmalonyl-Coenzyme a Mutase Deficiency

Diseases related to Methylmalonyl-Coenzyme a Mutase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 11.8

Symptoms & Phenotypes for Methylmalonyl-Coenzyme a Mutase Deficiency

Drugs & Therapeutics for Methylmalonyl-Coenzyme a Mutase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Not yet recruiting NCT03810690 Phase 1, Phase 2

Search NIH Clinical Center for Methylmalonyl-Coenzyme a Mutase Deficiency

Genetic Tests for Methylmalonyl-Coenzyme a Mutase Deficiency

Anatomical Context for Methylmalonyl-Coenzyme a Mutase Deficiency

MalaCards organs/tissues related to Methylmalonyl-Coenzyme a Mutase Deficiency:

41
Testes, Liver, Kidney, Pancreas

Publications for Methylmalonyl-Coenzyme a Mutase Deficiency

Articles related to Methylmalonyl-Coenzyme a Mutase Deficiency:

(show all 13)
# Title Authors Year
1
Anaesthetic considerations in a patient with methylmalonyl-coenzyme A mutase deficiency. ( 29307912 )
2017
2
Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry. ( 26018627 )
2015
3
Optimization and validation of a reversed-phase high performance liquid chromatography method for the measurement of bovine liver methylmalonyl-coenzyme a mutase activity. ( 24131771 )
2013
4
Molecular analysis and heterologous expression of the gene encoding methylmalonyl-coenzyme A mutase from rifamycin SV-producing strain Amycolatopsis mediterranei U32. ( 10813025 )
1999
5
Comparison of two methods for the measurement of rat liver methylmalonyl-coenzyme A mutase activity: HPLC and radioisotopic assays. ( 15539251 )
1999
6
Cloning, sequencing, and expression of the gene encoding methylmalonyl-coenzyme A mutase from Streptomyces cinnamonensis. ( 8099072 )
1993
7
Anesthetic management of a child with methylmalonyl-coenzyme A mutase deficiency. ( 1680300 )
1991
8
Source of methylmalonyl-coenzyme A for erythromycin synthesis: methylmalonyl-coenzyme A mutase from Streptomyces erythreus. ( 6143534 )
1984
9
Cleavage of coenzyme B 12 by methylmalonyl coenzyme A mutase. ( 4539956 )
1973
10
A direct radioassay of methylmalonyl-coenzyme A mutase using enzymatically synthesized DL-(3- 14 C)methylmalonyl-CoA. ( 4698847 )
1973
11
Urinary methylmalonate and hepatic methylmalonyl coenzyme A mutase activity in the vitamin B12-deficient rat. ( 5495846 )
1970
12
METABOLISM OF PROPIONIC ACID IN ANIMAL TISSUES. XII. PROPERTIES OF MAMMALIAN METHYLMALONYL COENZYME A MUTASE. ( 14321360 )
1965
13
DIRECT HYDROGEN TRANSFER BY METHYLMALONYL COENZYME A MUTASE. ( 14213378 )
1964

Variations for Methylmalonyl-Coenzyme a Mutase Deficiency

Expression for Methylmalonyl-Coenzyme a Mutase Deficiency

Search GEO for disease gene expression data for Methylmalonyl-Coenzyme a Mutase Deficiency.

Pathways for Methylmalonyl-Coenzyme a Mutase Deficiency

GO Terms for Methylmalonyl-Coenzyme a Mutase Deficiency

Sources for Methylmalonyl-Coenzyme a Mutase Deficiency

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73 UMLS
74 UMLS via Orphanet
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