MCID: CMB011
MIFTS: 26

Combined Malonic and Methylmalonic Aciduria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Combined Malonic and Methylmalonic Aciduria

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Aliases & Descriptions for Combined Malonic and Methylmalonic Aciduria:

Name: Combined Malonic and Methylmalonic Aciduria 50 46 23 24 52 68 25 12 66
Cmamma 46 24 52 68
 
Combined Malonic and Methylmalonic Acidemia 52

Characteristics:

Orphanet epidemiological data:

52
combined malonic and methylmalonic aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages

HPO:

62
combined malonic and methylmalonic aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614265
Orphanet52 ORPHA289504
ICD10 via Orphanet29 E71.1
MedGen35 C3280314
MeSH37 D008052

Summaries for Combined Malonic and Methylmalonic Aciduria

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NIH Rare Diseases:46 Combined malonic and methylmalonic aciduria (cmamma) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. people with cmamma can have a wide variety of symptoms. children with cmamma can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). in those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic alzheimer's disease and multiple sclerosis. recently, researchers have found that mutations in the acsf3 gene cause cmamma. last updated: 1/17/2012

MalaCards based summary: Combined Malonic and Methylmalonic Aciduria, also known as cmamma, is related to adenine phosphoribosyltransferase deficiency, and has symptoms including global developmental delay, failure to thrive and dehydration. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (Acyl-CoA Synthetase Family Member 3).

UniProtKB/Swiss-Prot:68 Combined malonic and methylmalonic aciduria: A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.

Genetics Home Reference:24 Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.

Description from OMIM:50 614265

Related Diseases for Combined Malonic and Methylmalonic Aciduria

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Diseases related to Combined Malonic and Methylmalonic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenine phosphoribosyltransferase deficiency9.5ACSF3, MLYCD

Symptoms for Combined Malonic and Methylmalonic Aciduria

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Clinical features from OMIM:

614265

HPO human phenotypes related to Combined Malonic and Methylmalonic Aciduria:

(show all 8)
id Description Frequency HPO Source Accession
1 global developmental delay HP:0001263
2 failure to thrive HP:0001508
3 dehydration HP:0001944
4 ketoacidosis HP:0001993
5 vomiting HP:0002013
6 diarrhea HP:0002014
7 generalized clonic seizures HP:0011169
8 methylmalonic aciduria HP:0012120

Drugs & Therapeutics for Combined Malonic and Methylmalonic Aciduria

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome StudyRecruitingNCT01289158

Search NIH Clinical Center for Combined Malonic and Methylmalonic Aciduria

Genetic Tests for Combined Malonic and Methylmalonic Aciduria

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Genetic tests related to Combined Malonic and Methylmalonic Aciduria:

id Genetic test Affiliating Genes
1 Combined Malonic and Methylmalonic Aciduria25 23 ACSF3

Anatomical Context for Combined Malonic and Methylmalonic Aciduria

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Animal Models for Combined Malonic and Methylmalonic Aciduria or affiliated genes

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Publications for Combined Malonic and Methylmalonic Aciduria

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Articles related to Combined Malonic and Methylmalonic Aciduria:

idTitleAuthorsYear
1
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. (21785126)
2011
2
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. (21841779)
2011
3
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. (9700595)
1998

Variations for Combined Malonic and Methylmalonic Aciduria

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UniProtKB/Swiss-Prot genetic disease variations for Combined Malonic and Methylmalonic Aciduria:

68
id Symbol AA change Variation ID SNP ID
1ACSF3p.Met198ArgVAR_066504rs387907121
2ACSF3p.Pro243LeuVAR_066505rs140986055
3ACSF3p.Thr358IleVAR_066506rs387907120
4ACSF3p.Glu359LysVAR_066507rs150487794
5ACSF3p.Lys462ThrVAR_066508
6ACSF3p.Arg471GlnVAR_066510rs387907119
7ACSF3p.Arg471TrpVAR_066511rs138680796
8ACSF3p.Gly480SerVAR_066512
9ACSF3p.Arg558TrpVAR_066513rs141090143

Clinvar genetic disease variations for Combined Malonic and Methylmalonic Aciduria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACSF3NM_174917.4(ACSF3): c.1672C> T (p.Arg558Trp)single nucleotide variantPathogenicrs141090143GRCh37Chr 16, 89220556: 89220556
2ACSF3NM_174917.4(ACSF3): c.1567C> T (p.Arg523Ter)single nucleotide variantPathogenicrs387907118GRCh37Chr 16, 89212411: 89212411
3ACSF3NM_174917.4(ACSF3): c.1075G> A (p.Glu359Lys)single nucleotide variantPathogenicrs150487794GRCh37Chr 16, 89180844: 89180844
4ACSF3NM_174917.4(ACSF3): c.1411C> T (p.Arg471Trp)single nucleotide variantPathogenicrs138680796GRCh37Chr 16, 89211719: 89211719
5ACSF3NM_174917.4(ACSF3): c.1412G> A (p.Arg471Gln)single nucleotide variantPathogenicrs387907119GRCh37Chr 16, 89211720: 89211720
6ACSF3NM_174917.4(ACSF3): c.1073C> T (p.Thr358Ile)single nucleotide variantPathogenicrs387907120GRCh37Chr 16, 89180842: 89180842
7ACSF3NM_174917.4(ACSF3): c.728C> T (p.Pro243Leu)single nucleotide variantPathogenicrs140986055GRCh37Chr 16, 89169073: 89169073
8ACSF3NM_174917.4(ACSF3): c.593T> G (p.Met198Arg)single nucleotide variantPathogenicrs387907121GRCh37Chr 16, 89167682: 89167682
9ACSF3ACSF3, LYS462THR AND GLY465_GLY470 DELdeletionPathogenic

Expression for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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Search GEO for disease gene expression data for Combined Malonic and Methylmalonic Aciduria.

Pathways for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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GO Terms for genes affiliated with Combined Malonic and Methylmalonic Aciduria

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Cellular components related to Combined Malonic and Methylmalonic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.4ACSF3, MLYCD
2mitochondrionGO:00057399.1ACSF3, MLYCD

Biological processes related to Combined Malonic and Methylmalonic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:00066339.1ACSF3, MLYCD

Sources for Combined Malonic and Methylmalonic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet