MCID: CMB011
MIFTS: 22

Combined Malonic and Methylmalonic Aciduria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Combined Malonic and Methylmalonic Aciduria

MalaCards integrated aliases for Combined Malonic and Methylmalonic Aciduria:

Name: Combined Malonic and Methylmalonic Aciduria 53 49 24 55 71 28 13 69
Cmamma 53 49 24 55 71
Combined Malonic and Methylmalonic Acidemia 55

Characteristics:

Orphanet epidemiological data:

55
combined malonic and methylmalonic acidemia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

HPO:

31
combined malonic and methylmalonic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 614265
Orphanet 55 ORPHA289504
UMLS via Orphanet 70 C3280314
ICD10 via Orphanet 33 E71.1
MedGen 39 C3280314
MeSH 41 D008052
UMLS 69 C3280314

Summaries for Combined Malonic and Methylmalonic Aciduria

NIH Rare Diseases : 49 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, is also known as cmamma, 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 : 71 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: 614265

Related Diseases for Combined Malonic and Methylmalonic Aciduria

Symptoms & Phenotypes for Combined Malonic and Methylmalonic Aciduria

Clinical features from OMIM:

614265

Human phenotypes related to Combined Malonic and Methylmalonic Aciduria:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 failure to thrive 31 HP:0001508
3 dehydration 31 HP:0001944
4 ketoacidosis 31 HP:0001993
5 vomiting 31 HP:0002013
6 diarrhea 31 HP:0002014
7 generalized clonic seizures 31 HP:0011169
8 methylmalonic aciduria 31 HP:0012120

Drugs & Therapeutics for Combined Malonic and Methylmalonic Aciduria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158

Search NIH Clinical Center for Combined Malonic and Methylmalonic Aciduria

Genetic Tests for Combined Malonic and Methylmalonic Aciduria

Genetic tests related to Combined Malonic and Methylmalonic Aciduria:

# Genetic test Affiliating Genes
1 Combined Malonic and Methylmalonic Aciduria 28 ACSF3

Anatomical Context for Combined Malonic and Methylmalonic Aciduria

Publications for Combined Malonic and Methylmalonic Aciduria

Articles related to Combined Malonic and Methylmalonic Aciduria:

# Title Authors Year
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

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

71
# Symbol AA change Variation ID SNP ID
1 ACSF3 p.Met198Arg VAR_066504 rs387907121
2 ACSF3 p.Pro243Leu VAR_066505 rs140986055
3 ACSF3 p.Thr358Ile VAR_066506 rs387907120
4 ACSF3 p.Glu359Lys VAR_066507 rs150487794
5 ACSF3 p.Lys462Thr VAR_066508
6 ACSF3 p.Arg471Gln VAR_066510 rs387907119
7 ACSF3 p.Arg471Trp VAR_066511 rs138680796
8 ACSF3 p.Gly480Ser VAR_066512
9 ACSF3 p.Arg558Trp VAR_066513 rs141090143

ClinVar genetic disease variations for Combined Malonic and Methylmalonic Aciduria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACSF3 NM_174917.4(ACSF3): c.1672C> T (p.Arg558Trp) single nucleotide variant Pathogenic rs141090143 GRCh37 Chromosome 16, 89220556: 89220556
2 ACSF3 NM_174917.4(ACSF3): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs387907118 GRCh37 Chromosome 16, 89212411: 89212411
3 ACSF3 NM_174917.4(ACSF3): c.1411C> T (p.Arg471Trp) single nucleotide variant Pathogenic rs138680796 GRCh37 Chromosome 16, 89211719: 89211719
4 ACSF3 NM_174917.4(ACSF3): c.1412G> A (p.Arg471Gln) single nucleotide variant Pathogenic rs387907119 GRCh37 Chromosome 16, 89211720: 89211720
5 ACSF3 NM_174917.4(ACSF3): c.1073C> T (p.Thr358Ile) single nucleotide variant Pathogenic rs387907120 GRCh37 Chromosome 16, 89180842: 89180842
6 ACSF3 NM_174917.4(ACSF3): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs140986055 GRCh37 Chromosome 16, 89169073: 89169073
7 ACSF3 NM_174917.4(ACSF3): c.593T> G (p.Met198Arg) single nucleotide variant Pathogenic rs387907121 GRCh37 Chromosome 16, 89167682: 89167682
8 ACSF3 ACSF3, LYS462THR AND GLY465_GLY470 DEL deletion Pathogenic

Expression for Combined Malonic and Methylmalonic Aciduria

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

Pathways for Combined Malonic and Methylmalonic Aciduria

GO Terms for Combined Malonic and Methylmalonic Aciduria

Sources for Combined Malonic and Methylmalonic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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