MLYCD DEFICIENCY
MCID: MLN011
MIFTS: 33

Malonyl-Coa Decarboxylase Deficiency (MLYCD DEFICIENCY)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Malonyl-Coa Decarboxylase Deficiency

MalaCards integrated aliases for Malonyl-Coa Decarboxylase Deficiency:

Name: Malonyl-Coa Decarboxylase Deficiency 58 77 54 26 60 76 38 13 56 41
Malonic Aciduria 54 26 60 74
Deficiency of Malonyl-Coa Decarboxylase 26 30 6
Malonic Acidemia 54 74
Mcd Deficiency 54 26
Malonyl-Coenzyme a Decarboxylase Deficiency 26
Malonyl-Coa Decarboxylase 13
Mlycd Deficiency 76
Malonicaciduria 54

Characteristics:

Orphanet epidemiological data:

60
malonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
symptoms may be precipitated by infection


HPO:

33
malonyl-coa decarboxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Malonyl-Coa Decarboxylase Deficiency

NIH Rare Diseases : 54 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.

MalaCards based summary : Malonyl-Coa Decarboxylase Deficiency, also known as malonic aciduria, is related to combined malonic and methylmalonic aciduria and hypotonia, and has symptoms including seizures, vomiting and abdominal pain. An important gene associated with Malonyl-Coa Decarboxylase Deficiency is MLYCD (Malonyl-CoA Decarboxylase), and among its related pathways/superpathways are beta-Alanine metabolism and Propanoate metabolism. Affiliated tissues include heart, skin and brain, and related phenotypes are pachygyria and seizures

Genetics Home Reference : 26 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 : 58 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 : 76 Malonyl-CoA decarboxylase deficiency: Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria.

Wikipedia : 77 Malonyl-CoA decarboxylase deficiency (MCD), is an autosomal-recessivemetabolic disorder caused by a... more...

Related Diseases for Malonyl-Coa Decarboxylase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 combined malonic and methylmalonic aciduria 11.6
2 hypotonia 10.3
3 breast cancer 10.3
4 pulmonary hypertension 10.3
5 ischemic heart disease 10.3
6 heart disease 10.3
7 multiple carboxylase deficiency 10.0

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

Human phenotypes related to Malonyl-Coa Decarboxylase Deficiency:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pachygyria 33 occasional (7.5%) HP:0001302
2 seizures 33 HP:0001250
3 muscular hypotonia 33 HP:0001252
4 constipation 33 HP:0002019
5 global developmental delay 33 HP:0001263
6 short stature 33 HP:0004322
7 vomiting 33 HP:0002013
8 hypertrophic cardiomyopathy 33 HP:0001639
9 hypoglycemia 33 HP:0001943
10 abdominal pain 33 HP:0002027
11 lactic acidosis 33 HP:0003128
12 diarrhea 33 HP:0002014
13 metabolic acidosis 33 HP:0001942
14 generalized hypotonia 33 HP:0001290
15 ketosis 33 HP:0001946
16 chronic constipation 33 HP:0012450

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
frontotemporal atrophy
developmental delay in early childhood
white matter changes on brain imaging (less common)
pachygyria (less common)
more
Abdomen Gastrointestinal:
vomiting
abdominal pain
diarrhea
chronic constipation

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

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature

Cardiovascular Heart:
hypertrophic cardiomyopathy

Metabolic Features:
metabolic acidosis

Clinical features from OMIM:

248360

UMLS symptoms related to Malonyl-Coa Decarboxylase Deficiency:


seizures, vomiting, abdominal pain, diarrhea, chronic constipation

Drugs & Therapeutics for Malonyl-Coa Decarboxylase Deficiency

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 Malonyl-Coa Decarboxylase Deficiency

Genetic Tests for Malonyl-Coa Decarboxylase Deficiency

Genetic tests related to Malonyl-Coa Decarboxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Malonyl-Coa Decarboxylase 30 MLYCD

Anatomical Context for Malonyl-Coa Decarboxylase Deficiency

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

42
Heart, Skin, Brain, Breast

Publications for Malonyl-Coa Decarboxylase Deficiency

Articles related to Malonyl-Coa Decarboxylase Deficiency:

(show all 28)
# 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 )
2015
4
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. ( 26320211 )
2015
5
Malonic aciduria: long-term follow-up of new patients detected by newborn screening. ( 25233985 )
2014
6
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment. ( 23177061 )
2013
7
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria. ( 22104738 )
2012
8
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen. ( 23071203 )
2012
9
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. ( 20549361 )
2010
10
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. ( 17535268 )
2007
11
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. ( 16275149 )
2006
12
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. ( 16078122 )
2005
13
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. ( 12651823 )
2003
14
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. ( 12955715 )
2003
15
Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency. ( 11461195 )
2001
16
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. ( 11550227 )
2001
17
The molecular basis of malonyl-CoA decarboxylase deficiency. ( 10417274 )
1999
18
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. ( 10455107 )
1999
19
Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts. ( 10604140 )
1999
20
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. ( 9869665 )
1999
21
Fatal neonatal malonic aciduria. ( 9501274 )
1998
22
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. ( 9177981 )
1997
23
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy. ( 8869944 )
1996
24
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease. ( 7837777 )
1994
25
Malonic aciduria. ( 7537025 )
1994
26
Malonic aciduria and cardiomyopathy. ( 7609455 )
1993
27
Malonyl coenzyme A decarboxylase deficiency. ( 8259873 )
1993
28
Malonyl coenzyme A decarboxylase deficiency. ( 6145813 )
1984

Variations for Malonyl-Coa Decarboxylase Deficiency

ClinVar genetic disease variations for Malonyl-Coa Decarboxylase Deficiency:

6 (show top 50) (show all 151)
# 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 NM_012213.2(MLYCD): c.560C> G (p.Ser187Ter) single nucleotide variant Pathogenic rs104894528 GRCh38 Chromosome 16, 83907018: 83907018
3 MLYCD NM_012213.2(MLYCD): c.949-14A> G single nucleotide variant Pathogenic GRCh37 Chromosome 16, 83948547: 83948547
4 MLYCD NM_012213.2(MLYCD): c.949-14A> G single nucleotide variant Pathogenic GRCh38 Chromosome 16, 83914942: 83914942
5 MLYCD NM_012213.2(MLYCD): c.640_641+2del deletion Pathogenic GRCh37 Chromosome 16, 83940703: 83940706
6 MLYCD NM_012213.2(MLYCD): c.640_641+2del deletion Pathogenic GRCh38 Chromosome 16, 83907098: 83907101
7 MLYCD NM_012213.2(MLYCD): c.1064_1065delTT (p.Phe355Tyrfs) deletion Pathogenic GRCh38 Chromosome 16, 83915071: 83915072
8 MLYCD NM_012213.2(MLYCD): c.1064_1065delTT (p.Phe355Tyrfs) deletion Pathogenic GRCh37 Chromosome 16, 83948676: 83948677
9 MLYCD NM_012213.2(MLYCD): c.8G> A (p.Gly3Asp) single nucleotide variant Pathogenic rs121908081 GRCh37 Chromosome 16, 83932757: 83932757
10 MLYCD NM_012213.2(MLYCD): c.8G> A (p.Gly3Asp) single nucleotide variant Pathogenic rs121908081 GRCh38 Chromosome 16, 83899152: 83899152
11 MLYCD NM_012213.2(MLYCD): c.119T> C (p.Met40Thr) single nucleotide variant Pathogenic rs28937908 GRCh37 Chromosome 16, 83932868: 83932868
12 MLYCD NM_012213.2(MLYCD): c.119T> C (p.Met40Thr) single nucleotide variant Pathogenic rs28937908 GRCh38 Chromosome 16, 83899263: 83899263
13 MLYCD MLYCD, 25-BP DEL, NT84 deletion Pathogenic
14 MLYCD NM_012213.2(MLYCD): c.444C> T (p.Asp148=) single nucleotide variant Benign/Likely benign rs62640904 GRCh37 Chromosome 16, 83933193: 83933193
15 MLYCD NM_012213.2(MLYCD): c.444C> T (p.Asp148=) single nucleotide variant Benign/Likely benign rs62640904 GRCh38 Chromosome 16, 83899588: 83899588
16 MLYCD NM_012213.2(MLYCD): c.528+19T> C single nucleotide variant Benign rs446036 GRCh37 Chromosome 16, 83933296: 83933296
17 MLYCD NM_012213.2(MLYCD): c.528+19T> C single nucleotide variant Benign rs446036 GRCh38 Chromosome 16, 83899691: 83899691
18 MLYCD NM_012213.2(MLYCD): c.642-12A> T single nucleotide variant Benign/Likely benign rs2278036 GRCh37 Chromosome 16, 83941719: 83941719
19 MLYCD NM_012213.2(MLYCD): c.642-12A> T single nucleotide variant Benign/Likely benign rs2278036 GRCh38 Chromosome 16, 83908114: 83908114
20 MLYCD NM_012213.2(MLYCD): c.642-5C> T single nucleotide variant Benign/Likely benign rs2278037 GRCh37 Chromosome 16, 83941726: 83941726
21 MLYCD NM_012213.2(MLYCD): c.642-5C> T single nucleotide variant Benign/Likely benign rs2278037 GRCh38 Chromosome 16, 83908121: 83908121
22 MLYCD NM_012213.2(MLYCD): c.776G> C (p.Gly259Ala) single nucleotide variant Benign/Likely benign rs77493891 GRCh37 Chromosome 16, 83941865: 83941865
23 MLYCD NM_012213.2(MLYCD): c.776G> C (p.Gly259Ala) single nucleotide variant Benign/Likely benign rs77493891 GRCh38 Chromosome 16, 83908260: 83908260
24 MLYCD NM_012213.2(MLYCD): c.850A> G (p.Thr284Ala) single nucleotide variant Benign/Likely benign rs62640903 GRCh38 Chromosome 16, 83912269: 83912269
25 MLYCD NM_012213.2(MLYCD): c.850A> G (p.Thr284Ala) single nucleotide variant Benign/Likely benign rs62640903 GRCh37 Chromosome 16, 83945874: 83945874
26 MLYCD NM_012213.2(MLYCD): c.31A> G (p.Arg11Gly) single nucleotide variant Benign/Likely benign rs138107830 GRCh38 Chromosome 16, 83899175: 83899175
27 MLYCD NM_012213.2(MLYCD): c.31A> G (p.Arg11Gly) single nucleotide variant Benign/Likely benign rs138107830 GRCh37 Chromosome 16, 83932780: 83932780
28 MLYCD NM_012213.2(MLYCD): c.732G> A (p.Ser244=) single nucleotide variant Benign/Likely benign rs2278038 GRCh38 Chromosome 16, 83908216: 83908216
29 MLYCD NM_012213.2(MLYCD): c.732G> A (p.Ser244=) single nucleotide variant Benign/Likely benign rs2278038 GRCh37 Chromosome 16, 83941821: 83941821
30 MLYCD NM_012213.2(MLYCD): c.13G> A (p.Gly5Arg) single nucleotide variant Likely benign rs745604653 GRCh38 Chromosome 16, 83899157: 83899157
31 MLYCD NM_012213.2(MLYCD): c.13G> A (p.Gly5Arg) single nucleotide variant Likely benign rs745604653 GRCh37 Chromosome 16, 83932762: 83932762
32 MLYCD NM_012213.2(MLYCD): c.135C> T (p.Arg45=) single nucleotide variant Conflicting interpretations of pathogenicity rs767969074 GRCh38 Chromosome 16, 83899279: 83899279
33 MLYCD NM_012213.2(MLYCD): c.135C> T (p.Arg45=) single nucleotide variant Conflicting interpretations of pathogenicity rs767969074 GRCh37 Chromosome 16, 83932884: 83932884
34 MLYCD NM_012213.2(MLYCD): c.1464A> G (p.Gln488=) single nucleotide variant Benign/Likely benign rs1127368 GRCh38 Chromosome 16, 83915471: 83915471
35 MLYCD NM_012213.2(MLYCD): c.1464A> G (p.Gln488=) single nucleotide variant Benign/Likely benign rs1127368 GRCh37 Chromosome 16, 83949076: 83949076
36 MLYCD NM_012213.2(MLYCD): c.*135A> G single nucleotide variant Uncertain significance rs571831745 GRCh38 Chromosome 16, 83915624: 83915624
37 MLYCD NM_012213.2(MLYCD): c.*135A> G single nucleotide variant Uncertain significance rs571831745 GRCh37 Chromosome 16, 83949229: 83949229
38 MLYCD NM_012213.2(MLYCD): c.*286G> T single nucleotide variant Uncertain significance rs573672482 GRCh38 Chromosome 16, 83915775: 83915775
39 MLYCD NM_012213.2(MLYCD): c.*286G> T single nucleotide variant Uncertain significance rs573672482 GRCh37 Chromosome 16, 83949380: 83949380
40 MLYCD NM_012213.2(MLYCD): c.*412T> C single nucleotide variant Benign rs1127382 GRCh38 Chromosome 16, 83915901: 83915901
41 MLYCD NM_012213.2(MLYCD): c.*412T> C single nucleotide variant Benign rs1127382 GRCh37 Chromosome 16, 83949506: 83949506
42 MLYCD NM_012213.2(MLYCD): c.463G> T (p.Val155Leu) single nucleotide variant Uncertain significance rs764848387 GRCh38 Chromosome 16, 83899607: 83899607
43 MLYCD NM_012213.2(MLYCD): c.463G> T (p.Val155Leu) single nucleotide variant Uncertain significance rs764848387 GRCh37 Chromosome 16, 83933212: 83933212
44 MLYCD NM_012213.2(MLYCD): c.468G> C (p.Gln156His) single nucleotide variant Uncertain significance rs886052357 GRCh38 Chromosome 16, 83899612: 83899612
45 MLYCD NM_012213.2(MLYCD): c.468G> C (p.Gln156His) single nucleotide variant Uncertain significance rs886052357 GRCh37 Chromosome 16, 83933217: 83933217
46 MLYCD NM_012213.2(MLYCD): c.613C> T (p.Pro205Ser) single nucleotide variant Uncertain significance rs759089126 GRCh38 Chromosome 16, 83907071: 83907071
47 MLYCD NM_012213.2(MLYCD): c.613C> T (p.Pro205Ser) single nucleotide variant Uncertain significance rs759089126 GRCh37 Chromosome 16, 83940676: 83940676
48 MLYCD NM_012213.2(MLYCD): c.734C> G (p.Thr245Ser) single nucleotide variant Uncertain significance rs886052358 GRCh38 Chromosome 16, 83908218: 83908218
49 MLYCD NM_012213.2(MLYCD): c.734C> G (p.Thr245Ser) single nucleotide variant Uncertain significance rs886052358 GRCh37 Chromosome 16, 83941823: 83941823
50 MLYCD NM_012213.2(MLYCD): c.998G> T (p.Gly333Val) single nucleotide variant Uncertain significance rs886052359 GRCh38 Chromosome 16, 83915005: 83915005

Expression for Malonyl-Coa Decarboxylase Deficiency

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

Pathways for Malonyl-Coa Decarboxylase Deficiency

Pathways related to Malonyl-Coa Decarboxylase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 beta-Alanine metabolism hsa00410
2 Propanoate metabolism hsa00640
3 Peroxisome hsa04146

GO Terms for Malonyl-Coa Decarboxylase Deficiency

Sources for Malonyl-Coa Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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