MCID: MLN011
MIFTS: 34

Malonyl-Coa Decarboxylase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Malonyl-Coa Decarboxylase Deficiency

MalaCards integrated aliases for Malonyl-Coa Decarboxylase Deficiency:

Name: Malonyl-Coa Decarboxylase Deficiency 54 50 24 25 56 71 13 52
Malonic Aciduria 50 24 25 56 69
Deficiency of Malonyl-Coa Decarboxylase 25 29
Malonic Acidemia 50 69
Mcd Deficiency 50 25
Malonyl-Coenzyme a Decarboxylase Deficiency 25
Malonyl-Coa Decarboxylase 13
Mlycd Deficiency 71
Malonicaciduria 50

Characteristics:

Orphanet epidemiological data:

56
malonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
symptoms may be precipitated by infection


HPO:

32
malonyl-coa decarboxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Malonyl-Coa Decarboxylase Deficiency

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 943disease definitionmalonic aciduria is a metabolic disorder caused by deficiency of malonyl-coa decarboxylase (mcd).epidemiologyit is a very rare disorder that has been described in less than 20 patients.clinical descriptionthis condition usually presents in early childhood and the manifestations are variable. the majority of patients are developmentally delayed with other features that include hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea.etiologythe disease is caused by mutations in the malonyl-coa decarboxylase gene (mlycd, chromosome 16q24) and is inherited as an autosomal recessivetrait. the mcd enzyme is involved in the degradation of malonyl-coa and it appears that inhibition of fatty acid synthesis as a result of malonyl-coa accumulation is responsible for at least some of the clinical manifestations of the disorder.diagnostic methodsthe diagnosis of malonic aciduria can be made by detecting elevated levels of organic acids (in particular malonic and methylmalonic acid) in the urine and high levels of malonylcarnitine in the blood. the diagnosis is confirmed by demonstrating reduced enzyme activity in cultured skin fibroblasts. identification of the mlycd gene mutation may also be useful for diagnosis and for genetic counselling.antenatal diagnosisscreening of newborns may be possible through detection of elevated blood levels of malonylcarnitine using electrospray ionisation tandem mass spectrometry (esi-ms/ms). prenatal screening is theoretically possible through enzyme or dna analysis of amniocytes or chorionic villus samples.management and treatmentthe principle treatment is dietary, with patients being recommended to follow a low fat/high carbohydrate diet. carnitine supplements may also be recommended.prognosisthe prognosis for patients is variable but the disease can be lethal in the neonatal period.visit the orphanet disease page for more resources. last updated: 12/13/2006

MalaCards based summary : Malonyl-Coa Decarboxylase Deficiency, also known as malonic aciduria, is related to combined malonic and methylmalonic aciduria and cardiomyopathy, and has symptoms including short stature, diarrhea and seizures. An important gene associated with Malonyl-Coa Decarboxylase Deficiency is MLYCD (Malonyl-CoA Decarboxylase). Affiliated tissues include heart, skin and brain.

Genetics Home Reference : 25 Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.

OMIM : 54
Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001). (248360)

UniProtKB/Swiss-Prot : 71 Malonyl-CoA decarboxylase deficiency: Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria.

Related Diseases for Malonyl-Coa Decarboxylase Deficiency

Diseases related to Malonyl-Coa Decarboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 combined malonic and methylmalonic aciduria 11.3
2 cardiomyopathy 10.2
3 hypotonia 10.1
4 multiple carboxylase deficiency 9.8
5 biotin-responsive multiple carboxylase deficiencies 9.8

Graphical network of the top 20 diseases related to Malonyl-Coa Decarboxylase Deficiency:



Diseases related to Malonyl-Coa Decarboxylase Deficiency

Symptoms & Phenotypes for Malonyl-Coa Decarboxylase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- Gastroin testinal:
diarrhea
vomiting
abdominal pain
chronic constipation

Metabolic Features:
metabolic acidosis

Laboratory- Abnormalities:
hypoglycemia
ketosis
lactic acidemia
abnormal urinary compounds
mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

Muscle Soft Tissue:
hypotonia

Neurologic- Central Nervous System:
seizures
frontotemporal atrophy
developmental delay in early childhood
white matter changes on brain imaging (less common)
pachygyria (less common)
more
Cardiovascular- Heart:
hypertrophic cardiomyopathy


Clinical features from OMIM:

248360

Human phenotypes related to Malonyl-Coa Decarboxylase Deficiency:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 diarrhea 32 HP:0002014
3 seizures 32 HP:0001250
4 metabolic acidosis 32 HP:0001942
5 pachygyria 32 occasional (7.5%) HP:0001302
6 global developmental delay 32 HP:0001263
7 hypertrophic cardiomyopathy 32 HP:0001639
8 lactic acidosis 32 HP:0003128
9 vomiting 32 HP:0002013
10 hypoglycemia 32 HP:0001943
11 ketosis 32 HP:0001946
12 abdominal pain 32 HP:0002027
13 muscular hypotonia 32 HP:0001252
14 chronic constipation 32 HP:0012450

UMLS symptoms related to Malonyl-Coa Decarboxylase Deficiency:


abdominal pain, diarrhea, seizures, vomiting, chronic constipation

Drugs & Therapeutics for Malonyl-Coa Decarboxylase Deficiency

Interventional clinical trials:


id 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 Malonyl-Coa Decarboxylase Deficiency

Genetic Tests for Malonyl-Coa Decarboxylase Deficiency

Genetic tests related to Malonyl-Coa Decarboxylase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Malonyl-Coa Decarboxylase 29
2 Malonyl-Coa Decarboxylase Deficiency 24 MLYCD

Anatomical Context for Malonyl-Coa Decarboxylase Deficiency

MalaCards organs/tissues related to Malonyl-Coa Decarboxylase Deficiency:

39
Heart, Skin, Brain

Publications for Malonyl-Coa Decarboxylase Deficiency

Articles related to Malonyl-Coa Decarboxylase Deficiency:

(show all 13)
id Title Authors Year
1
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case. ( 28781843 )
2017
2
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features. ( 26858006 )
2016
3
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations. ( 24613099 )
2014
4
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. ( 20549361 )
2010
5
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. ( 17535268 )
2007
6
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. ( 16275149 )
2006
7
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. ( 16078122 )
2005
8
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. ( 12651823 )
2003
9
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. ( 11550227 )
2001
10
Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency. ( 11461195 )
2001
11
The molecular basis of malonyl-CoA decarboxylase deficiency. ( 10417274 )
1999
12
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. ( 10455107 )
1999
13
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease. ( 7837777 )
1994

Variations for Malonyl-Coa Decarboxylase Deficiency

ClinVar genetic disease variations for Malonyl-Coa Decarboxylase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MLYCD NM_012213.2(MLYCD): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs104894528 GRCh37 Chromosome 16, 83940623: 83940623
2 MLYCD MLYCD, IVS4AS, A-G, -14 single nucleotide variant Pathogenic
3 MLYCD MLYCD, 4-BP DEL, 638GTGA deletion Pathogenic
4 MLYCD MLYCD, 2-BP DEL, 947TT deletion Pathogenic
5 MLYCD NM_012213.2(MLYCD): c.8G> A (p.Gly3Asp) single nucleotide variant Pathogenic rs121908081 GRCh37 Chromosome 16, 83932757: 83932757
6 MLYCD NM_012213.2(MLYCD): c.119T> C (p.Met40Thr) single nucleotide variant Pathogenic rs28937908 GRCh37 Chromosome 16, 83932868: 83932868
7 MLYCD MLYCD, 25-BP DEL, NT84 deletion Pathogenic

Expression for Malonyl-Coa Decarboxylase Deficiency

Search GEO for disease gene expression data for Malonyl-Coa Decarboxylase Deficiency.

Pathways for Malonyl-Coa Decarboxylase Deficiency

GO Terms for Malonyl-Coa Decarboxylase Deficiency

Sources for Malonyl-Coa Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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