MCID: MLT018
MIFTS: 37

Multiple Carboxylase Deficiency malady

Category: Metabolic diseases

Aliases & Classifications for Multiple Carboxylase Deficiency

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Aliases & Descriptions for Multiple Carboxylase Deficiency:

Name: Multiple Carboxylase Deficiency 11 13 48 37 66
 
Holocarboxylase Synthetase Deficiency 66

Classifications:



External Ids:

Disease Ontology11 DOID:857
SNOMED-CT60 62151000119109
MeSH37 D009100

Summaries for Multiple Carboxylase Deficiency

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Wikipedia:69 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 multiple carboxylase deficiency, biotin responsive, and has symptoms including hearing impairment, skin rash and hypertrichosis. An important gene associated with Multiple Carboxylase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways are Biotin metabolism and Import of palmitoyl-CoA into the mitochondrial matrix. 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

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Graphical network of diseases related to Multiple Carboxylase Deficiency:



Diseases related to multiple carboxylase deficiency

Symptoms for Multiple Carboxylase Deficiency

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HPO human phenotypes related to Multiple Carboxylase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 skin rash hallmark (90%) HP:0000988
3 hypertrichosis hallmark (90%) HP:0000998
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 nausea and vomiting hallmark (90%) HP:0002017
7 reduced consciousness/confusion hallmark (90%) HP:0004372
8 abnormal blistering of the skin hallmark (90%) HP:0008066
9 inflammatory abnormality of the eye hallmark (90%) HP:0100533
10 cognitive impairment hallmark (90%) HP:0100543
11 weight loss typical (50%) HP:0001824

UMLS symptoms related to Multiple Carboxylase Deficiency:


exanthema, lethargy, seizures, vomiting

Drugs & Therapeutics for Multiple Carboxylase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic AcidNutraceutical414359-30-36037
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
2FolateNutraceutical4143
3
BiotinNutraceutical4058-85-5171548
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
4pyruvateNutraceutical34

Interventional clinical trials:

idNameStatusNCT IDPhase
1Biotin Deficiency and Restless Legs SyndromeCompletedNCT02011191
2Biotin Status in PregnancyCompletedNCT00894920
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

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Anatomical Context for Multiple Carboxylase Deficiency

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MalaCards organs/tissues related to Multiple Carboxylase Deficiency:

34
Skin, Eye, Liver, Brain

Animal Models for Multiple Carboxylase Deficiency or affiliated genes

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Publications for Multiple Carboxylase Deficiency

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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
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (18429047)
2008
5
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
6
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. (18845537)
2008
7
Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. (17274881)
2006
8
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. (14613969)
2004
9
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. (15456772)
2004
10
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. (10068510)
1999
11
Multiple carboxylase deficiency]. (9492625)
1998
12
Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. (9645047)
1998
13
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. (9350481)
1997
14
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy. (9061576)
1997
15
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. (8817339)
1996
16
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. (8517616)
1993
17
Neonatal form of biotin-responsive multiple carboxylase deficiency. (1297821)
1992
18
Fatty acid transport in multiple carboxylase deficiency fibroblasts. (2123277)
1990
19
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. (2501583)
1989
20
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. (2663376)
1989
21
Multiple carboxylase deficiency. (3284772)
1988
22
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. (3148068)
1988
23
Multiple carboxylase deficiency due to deficiency of biotinidase. (3783319)
1986
24
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. (3920902)
1985
25
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. (3930851)
1985
26
Prenatal treatment of multiple carboxylase deficiency. (3925857)
1985
27
Lipid metabolism in biotin-responsive multiple carboxylase deficiency. (2878112)
1985
28
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. (6434862)
1984
29
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. (6828095)
1983
30
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. (6886110)
1983
31
Biotinidase deficiency in juvenile multiple carboxylase deficiency. (6135890)
1983
32
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (6848914)
1983
33
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
34
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. (6811711)
1982
35
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. (7102675)
1982
36
Organic aciduria in neonatal multiple carboxylase deficiency. (6820414)
1982
37
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. (6819258)
1982
38
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. (6212592)
1982
39
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. (6799930)
1982
40
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. (6807281)
1982
41
Prenatal treatment of biotin responsive multiple carboxylase deficiency. (6123722)
1982
42
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. (6112081)
1981
43
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. (7198043)
1981
44
Biotin-responsive multiple carboxylase deficiency of infantile onset. (7264799)
1981
45
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. (6794361)
1981
46
The neonatal form of biotin-responsive multiple carboxylase deficiency. (7264798)
1981
47
Defective biotin absorption in multiple carboxylase deficiency. (6114319)
1981
48
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (6798072)
1981
49
Two forms of biotin-responsive multiple carboxylase deficiency. (6790844)
1981
50
Fatty-acid-responsive alopecia in multiple carboxylase deficiency. (6103410)
1980

Variations for Multiple Carboxylase Deficiency

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Expression for genes affiliated with Multiple Carboxylase Deficiency

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

Pathways for genes affiliated with Multiple Carboxylase Deficiency

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

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.7BTD, HLCS
29.5ACACA, ACACB
3
Show member pathways
9.5ACACA, ACACB
49.5ACACA, ACACB
59.5ACACA, ACACB
69.5ACACA, ACACB
7
Show member pathways
9.5ACACA, ACACB
8
Show member pathways
9.0MCCC2, PCCB
9
Show member pathways
9.0ACACA, ACACB, PC
10
Show member pathways
9.0ACACA, ACACB, PC
118.7ACACA, ACACB, PCCB
12
Show member pathways
8.7ACACA, ACACB, PCCB
13
Show member pathways
7.5ACACA, ACACB, MCCC2, PC, PCCB
14
Show member pathways
7.5ACACA, ACACB, MCCC2, PC, PCCB
15
Show member pathways
7.5ACACA, ACACB, MCCC2, PC, PCCB
16
Show member pathways
6.7ACACA, ACACB, BTD, HLCS, MCCC2, PC
17
Show member pathways
6.7ACACA, ACACB, BTD, HLCS, MCCC2, PC

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.5BTD, MCCC2, PC, PCCB
2mitochondrionGO:00057397.2ACACA, ACACB, HLCS, MCCC2, PC, PCCB
3cytosolGO:00058296.9ACACA, ACACB, HLCS, MCCC2, PC, PCCB

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1malonyl-CoA biosynthetic processGO:200129510.0ACACA, ACACB
2acetyl-CoA metabolic processGO:000608410.0ACACA, ACACB
3positive regulation of cellular metabolic processGO:003132510.0ACACA, ACACB
4fatty acid biosynthetic processGO:00066339.8ACACA, ACACB
5carnitine shuttleGO:00068539.7ACACA, ACACB
6protein homotetramerizationGO:00512899.5ACACA, ACACB
7biotin metabolic processGO:00067687.1ACACA, ACACB, BTD, HLCS, MCCC2, PC

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

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA carboxylase activityGO:000398910.2ACACA, ACACB
2biotin bindingGO:00093749.7ACACB, HLCS, PC
3biotin carboxylase activityGO:00040759.6ACACA, ACACB, PC
4ATP bindingGO:00055247.2ACACA, ACACB, HLCS, MCCC2, PC, PCCB

Sources for Multiple Carboxylase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet