MCID: CMB011
MIFTS: 27

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 52 48 24 25 54 70 27 12 68
Cmamma 48 25 54 70
 
Combined Malonic and Methylmalonic Acidemia 54

Characteristics:

Orphanet epidemiological data:

54
combined malonic and methylmalonic aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages

HPO:

64
combined malonic and methylmalonic aciduria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614265
Orphanet54 ORPHA289504
ICD10 via Orphanet31 E71.1
MedGen37 C3280314
MeSH39 D008052

Summaries for Combined Malonic and Methylmalonic Aciduria

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NIH Rare Diseases:48 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).

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:70 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.

Description from OMIM:52 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 & Phenotypes for Combined Malonic and Methylmalonic Aciduria

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Clinical features from OMIM:

614265

Human phenotypes related to Combined Malonic and Methylmalonic Aciduria:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 global developmental delay64 HP:0001263
2 failure to thrive64 HP:0001508
3 dehydration64 HP:0001944
4 ketoacidosis64 HP:0001993
5 vomiting64 HP:0002013
6 diarrhea64 HP:0002014
7 generalized clonic seizures64 HP:0011169
8 methylmalonic aciduria64 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 StudyUnknown statusNCT01289158

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 Aciduria27 24 ACSF3

Anatomical Context for Combined Malonic and Methylmalonic Aciduria

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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:

70
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)SNVPathogenicrs141090143GRCh37Chr 16, 89220556: 89220556
2ACSF3NM_174917.4(ACSF3): c.1567C> T (p.Arg523Ter)SNVPathogenicrs387907118GRCh37Chr 16, 89212411: 89212411
3ACSF3NM_174917.4(ACSF3): c.1075G> A (p.Glu359Lys)SNVPathogenicrs150487794GRCh37Chr 16, 89180844: 89180844
4ACSF3NM_174917.4(ACSF3): c.1411C> T (p.Arg471Trp)SNVPathogenicrs138680796GRCh37Chr 16, 89211719: 89211719
5ACSF3NM_174917.4(ACSF3): c.1412G> A (p.Arg471Gln)SNVPathogenicrs387907119GRCh37Chr 16, 89211720: 89211720
6ACSF3NM_174917.4(ACSF3): c.1073C> T (p.Thr358Ile)SNVPathogenicrs387907120GRCh37Chr 16, 89180842: 89180842
7ACSF3NM_174917.4(ACSF3): c.728C> T (p.Pro243Leu)SNVPathogenicrs140986055GRCh37Chr 16, 89169073: 89169073
8ACSF3NM_174917.4(ACSF3): c.593T> G (p.Met198Arg)SNVPathogenicrs387907121GRCh37Chr 16, 89167682: 89167682
9ACSF3ACSF3, LYS462THR AND GLY465_GLY470 DELdeletionPathogenicChr na, -1: -1

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:00057599.9ACSF3, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet