MCD
MCID: MLT018
MIFTS: 40

Multiple Carboxylase Deficiency (MCD) malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Multiple Carboxylase Deficiency

About this section

Aliases & Descriptions for Multiple Carboxylase Deficiency:

Name: Multiple Carboxylase Deficiency 11 48 50 39 13 68
Holocarboxylase Synthetase Deficiency 68
 
Mcd 48

Classifications:



External Ids:

Disease Ontology11 DOID:857
SNOMED-CT62 62151000119109
MeSH39 D009100

Summaries for Multiple Carboxylase Deficiency

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

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 exanthema, lethargy and seizures. An important gene associated with Multiple Carboxylase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways are Biotin metabolism and Pyruvate metabolism. Affiliated tissues include skin, eye and liver.

Disease Ontology:11 An amino acid metabolic disorder that involves failures of carboxylation enzymes.

Related Diseases for Multiple Carboxylase Deficiency

About this section

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



Diseases related to multiple carboxylase deficiency

Symptoms & Phenotypes for Multiple Carboxylase Deficiency

About this section

Human phenotypes related to Multiple Carboxylase Deficiency:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 hearing impairment64 HP:0000365
2 abnormality of vision64 HP:0000504
3 skin rash64 HP:0000988
4 seizures64 HP:0001250
5 muscular hypotonia64 HP:0001252
6 lethargy64 HP:0001254
7 global developmental delay64 HP:0001263
8 alopecia64 HP:0001596
9 weight loss64 HP:0001824
10 nausea and vomiting64 HP:0002017
11 abnormal blistering of the skin64 HP:0008066
12 inflammatory abnormality of the eye64 HP:0100533
13 cognitive impairment64 HP:0100543
14 skin vesicle64 HP:0200037

UMLS symptoms related to Multiple Carboxylase Deficiency:


exanthema, lethargy, seizures, vomiting

Drugs & Therapeutics for Multiple Carboxylase Deficiency

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Biotinapproved, nutraceutical4658-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
2
Folic Acidapproved, nutraceutical, vet_approved439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
3
Pyruvateapproved, Nutraceutical44
Synonyms:
 
2-oxopropanoate
4Vitamins5282
5Vitamin B Complex4337
6Trace Elements6001
7Micronutrients6001
8FolateNutraceutical4392
9Vitamin B9Nutraceutical4392
10Vitamin B7Nutraceutical46

Interventional clinical trials:

idNameStatusNCT IDPhase
1Biotin Status in PregnancyCompletedNCT00894920
2Biotin Deficiency and Restless Legs SyndromeCompletedNCT02011191
3Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

Search NIH Clinical Center for Multiple Carboxylase Deficiency


Cochrane evidence based reviews: multiple carboxylase deficiency

Genetic Tests for Multiple Carboxylase Deficiency

About this section

Anatomical Context for Multiple Carboxylase Deficiency

About this section

MalaCards organs/tissues related to Multiple Carboxylase Deficiency:

36
Skin, Eye, Liver, Brain

Publications for Multiple Carboxylase Deficiency

About this section

Articles related to Multiple Carboxylase Deficiency:

(show top 50)    (show all 56)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Multiple Carboxylase Deficiency

About this section
Search GEO for disease gene expression data for Multiple Carboxylase Deficiency.

Pathways for genes affiliated with Multiple Carboxylase Deficiency

About this section

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8BTD, HLCS
2
Show member pathways
9.6ACACA, PC
3
Show member pathways
9.6ACACA, PC
4
Show member pathways
9.2ACACA, ACADM
5
Show member pathways
9.0ACADM, PCCB
68.7ACADM, MCCC1, PC
78.6ACACA, ACADM, PCCB
8
Show member pathways
8.6ACADM, PC, PCCB
9
Show member pathways
8.0ACADM, MCCC1, MCCC2, PCCB
10
Show member pathways
7.9ACACA, MCCC1, MCCC2, PC, PCCB
11
Show member pathways
7.9ACACA, MCCC1, MCCC2, PC, PCCB
12
Show member pathways
7.9ACACA, MCCC1, MCCC2, PC, PCCB
13
Show member pathways
7.2ACACA, BTD, HLCS, MCCC1, MCCC2, PC
14
Show member pathways
6.4ACACA, ACADM, BTD, HLCS, MCCC1, MCCC2

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
13-methylcrotonyl-CoA carboxylase complex, mitochondrialGO:000216910.2MCCC1, MCCC2
2methylcrotonoyl-CoA carboxylase complexGO:190520210.2MCCC1, MCCC2
3mitochondrial matrixGO:00057597.9ACADM, BTD, MCCC1, MCCC2, PC, PCCB
4mitochondrionGO:00057396.8ACACA, ACADM, HLCS, MCCC1, MCCC2, PC

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:000663310.1ACACA, PCCB
2branched-chain amino acid catabolic processGO:000908310.1MCCC1, MCCC2
3leucine catabolic processGO:000655210.1MCCC1, MCCC2
4lipid metabolic processGO:00066299.4ACACA, ACADM, PC
5protein heterooligomerizationGO:00512919.4MCCC1, MCCC2
6metabolic processGO:00081528.9ACACA, ACADM, HLCS, PC
7biotin metabolic processGO:00067687.9ACACA, BTD, HLCS, MCCC1, MCCC2, PC

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA carboxylase activityGO:000398910.2ACACA, PCCB
2biotin bindingGO:00093749.8HLCS, MCCC1, PC
3biotin carboxylase activityGO:00040759.7ACACA, MCCC1, PC
4methylcrotonoyl-CoA carboxylase activityGO:00044859.4MCCC1, MCCC2
5catalytic activityGO:00038249.3ACACA, HLCS, MCCC1, PC
6ATP bindingGO:00055248.3ACACA, HLCS, MCCC1, MCCC2, PC, PCCB
7ligase activityGO:00168747.5ACACA, HLCS, MCCC1, MCCC2, PC, PCCB

Sources for Multiple Carboxylase Deficiency

About this section
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