MCD
MCID: MLT018
MIFTS: 40

Multiple Carboxylase Deficiency (MCD) malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Multiple Carboxylase Deficiency

Aliases & Descriptions for Multiple Carboxylase Deficiency:

Name: Multiple Carboxylase Deficiency 12 50 52 42 14 69
Holocarboxylase Synthetase Deficiency 69
Mcd 50

Classifications:



External Ids:

Disease Ontology 12 DOID:857
ICD10 33 D81.81 D81.819
MeSH 42 D009100
SNOMED-CT 64 62151000119109
UMLS 69 C0026755

Summaries for Multiple Carboxylase Deficiency

Disease Ontology : 12 An amino acid metabolic disorder that involves failures of carboxylation enzymes.

MalaCards based summary : Multiple Carboxylase Deficiency, also known as holocarboxylase synthetase deficiency, is related to biotinidase deficiency and holocarboxylase synthetase deficiency, and has symptoms including seizures, nausea and vomiting and lethargy. An important gene associated with Multiple Carboxylase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. The drugs Biotin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver.

Wikipedia : 71 Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation... more...

Related Diseases for Multiple Carboxylase Deficiency

Graphical network of the top 20 diseases related to Multiple Carboxylase Deficiency:



Diseases related to Multiple Carboxylase Deficiency

Symptoms & Phenotypes for Multiple Carboxylase Deficiency

Human phenotypes related to Multiple Carboxylase Deficiency:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 nausea and vomiting 32 HP:0002017
3 lethargy 32 HP:0001254
4 muscular hypotonia 32 HP:0001252
5 hearing impairment 32 HP:0000365
6 global developmental delay 32 HP:0001263
7 cognitive impairment 32 HP:0100543
8 abnormality of vision 32 HP:0000504
9 abnormal blistering of the skin 32 HP:0008066
10 weight loss 32 HP:0001824
11 skin rash 32 HP:0000988
12 alopecia 32 HP:0001596
13 inflammatory abnormality of the eye 32 HP:0100533
14 skin vesicle 32 HP:0200037

UMLS symptoms related to Multiple Carboxylase Deficiency:


exanthema, lethargy, seizures, vomiting

Drugs & Therapeutics for Multiple Carboxylase Deficiency

Drugs for Multiple Carboxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Biotin Approved, Nutraceutical 58-85-5 171548
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
Pyruvate Approved, Nutraceutical
4 Trace Elements
5 Vitamin B Complex
6 Vitamins
7 Micronutrients
8 Folate Nutraceutical
9 Vitamin B7 Nutraceutical
10 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biotin Status in Pregnancy Completed NCT00894920
2 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191
3 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

Search NIH Clinical Center for Multiple Carboxylase Deficiency

Cochrane evidence based reviews: multiple carboxylase deficiency

Genetic Tests for Multiple Carboxylase Deficiency

Anatomical Context for Multiple Carboxylase Deficiency

MalaCards organs/tissues related to Multiple Carboxylase Deficiency:

39
Skin, Eye, Liver, Brain

Publications for Multiple Carboxylase Deficiency

Articles related to Multiple Carboxylase Deficiency:

(show top 50) (show all 56)
id Title Authors Year
1
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). ( 27450367 )
2016
2
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase. ( 25284861 )
2014
3
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency]. ( 19806568 )
2009
4
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency. ( 18088573 )
2008
5
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. ( 18845537 )
2008
6
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. ( 18429047 )
2008
7
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. ( 17274881 )
2006
8
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. ( 15165201 )
2004
9
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. ( 15095958 )
2004
10
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. ( 15456772 )
2004
11
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. ( 14613969 )
2004
12
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. ( 10068510 )
1999
13
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. ( 9645047 )
1998
14
[Multiple carboxylase deficiency]. ( 9492625 )
1998
15
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. ( 9350481 )
1997
16
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy. ( 9061576 )
1997
17
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. ( 8817339 )
1996
18
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. ( 8517616 )
1993
19
Neonatal form of biotin-responsive multiple carboxylase deficiency. ( 1297821 )
1992
20
Fatty acid transport in multiple carboxylase deficiency fibroblasts. ( 2123277 )
1990
21
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. ( 2663376 )
1989
22
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. ( 2501583 )
1989
23
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. ( 3148068 )
1988
24
Multiple carboxylase deficiency. ( 3284772 )
1988
25
Multiple carboxylase deficiency due to deficiency of biotinidase. ( 3783319 )
1986
26
Prenatal treatment of multiple carboxylase deficiency. ( 3925857 )
1985
27
Lipid metabolism in biotin-responsive multiple carboxylase deficiency. ( 2878112 )
1985
28
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. ( 3930851 )
1985
29
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. ( 3920902 )
1985
30
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. ( 6434862 )
1984
31
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. ( 6141728 )
1984
32
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. ( 6883721 )
1983
33
Biotinidase deficiency in juvenile multiple carboxylase deficiency. ( 6135890 )
1983
34
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. ( 6886110 )
1983
35
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. ( 6828095 )
1983
36
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. ( 6848914 )
1983
37
Deficient liver biotinidase activity in multiple carboxylase deficiency. ( 6135889 )
1983
38
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. ( 7102675 )
1982
39
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. ( 6807281 )
1982
40
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. ( 6819258 )
1982
41
Protein-bound biotin: a consideration in multiple carboxylase deficiency. ( 6119473 )
1982
42
Prenatal treatment of biotin responsive multiple carboxylase deficiency. ( 6123722 )
1982
43
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. ( 6799930 )
1982
44
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. ( 6212592 )
1982
45
Organic aciduria in neonatal multiple carboxylase deficiency. ( 6820414 )
1982
46
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. ( 6811711 )
1982
47
Biotin-responsive multiple carboxylase deficiency of infantile onset. ( 7264799 )
1981
48
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. ( 6112081 )
1981
49
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. ( 6798072 )
1981
50
Two forms of biotin-responsive multiple carboxylase deficiency. ( 6790844 )
1981

Variations for Multiple Carboxylase Deficiency

Expression for Multiple Carboxylase Deficiency

Search GEO for disease gene expression data for Multiple Carboxylase Deficiency.

Pathways for Multiple Carboxylase Deficiency

Pathways related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 ACACA ACADM BTD HLCS MCCC1 MCCC2
2
Show member pathways
13.3 ACACA MCCC1 MCCC2 PC PCCB
3
Show member pathways
12.11 ACACA BTD HLCS MCCC1 MCCC2 PC
4
Show member pathways
11.97 ACADM PC PCCB
5
Show member pathways
11.63 ACADM MCCC1 MCCC2 PCCB
6 11.57 ACADM MCCC1 PC
7
Show member pathways
11.54 ACACA MCCC1 MCCC2 PC PCCB
8
Show member pathways
11.49 ACACA ACADM
9
Show member pathways
11.33 ACADM PCCB
10
Show member pathways
11.12 ACACA PC
11 11 ACACA ACADM PCCB
12 10.8 ACACA PC
13
Show member pathways
10.1 ACACA MCCC1 MCCC2 PC PCCB
14 9.85 BTD HLCS

GO Terms for Multiple Carboxylase Deficiency

Cellular components related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 ACACA ACADM HLCS MCCC1 MCCC2 PC
2 methylcrotonoyl-CoA carboxylase complex GO:1905202 9.26 MCCC1 MCCC2
3 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 9.16 MCCC1 MCCC2
4 mitochondrial matrix GO:0005759 9.1 ACADM BTD MCCC1 MCCC2 PC PCCB

Biological processes related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.58 ACACA ACADM PC
2 metabolic process GO:0008152 9.46 ACACA ACADM HLCS PC
3 fatty acid biosynthetic process GO:0006633 9.37 ACACA PCCB
4 protein heterooligomerization GO:0051291 9.32 MCCC1 MCCC2
5 branched-chain amino acid catabolic process GO:0009083 9.26 MCCC1 MCCC2
6 biotin metabolic process GO:0006768 9.17 ACACA BTD HLCS MCCC1 MCCC2 PC
7 leucine catabolic process GO:0006552 8.96 MCCC1 MCCC2

Molecular functions related to Multiple Carboxylase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.85 ACACA HLCS MCCC1 MCCC2 PC PCCB
2 catalytic activity GO:0003824 9.71 ACACA HLCS MCCC1 PC
3 biotin carboxylase activity GO:0004075 9.33 ACACA MCCC1 PC
4 acetyl-CoA carboxylase activity GO:0003989 9.32 ACACA PCCB
5 methylcrotonoyl-CoA carboxylase activity GO:0004485 9.26 MCCC1 MCCC2
6 biotin binding GO:0009374 9.13 HLCS MCCC1 PC
7 ligase activity GO:0016874 9.1 ACACA HLCS MCCC1 MCCC2 PC PCCB

Sources for Multiple Carboxylase 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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