MCD
MCID: MLT018
MIFTS: 49

Multiple Carboxylase Deficiency (MCD) malady

Skin diseases, Metabolic diseases categories

Summaries for Multiple Carboxylase Deficiency

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation... more...

MalaCards: Multiple Carboxylase Deficiency, also known as macular corneal dystrophy type i, is related to biotinidase deficiency and holocarboxylase synthetase deficiency, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, anomalies of the immunitary system and autosomal recessive inheritance. An important gene associated with Multiple Carboxylase Deficiency is BTD (biotinidase), and among its related pathways are Biotin metabolism and Pyruvate metabolism. The compounds multivitamin and acetyl-l-carnitine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related mouse phenotype liver/biliary system.

Disease Ontology:8 An amino acid metabolic disorder that involves failures of carboxylation enzymes.

Aliases & Classifications for Multiple Carboxylase Deficiency

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
multiple carboxylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple carboxylase deficiency 8 10 44 48 60
macular corneal dystrophy type i 60
mcd 48


External Ids:

Disease Ontology8 DOID:857
MeSH34 D009100
MESH via Orphanet35 D009100
ICD10 via Orphanet26 E53.8
UMLS via Orphanet61 C0026755

Related Diseases for Multiple Carboxylase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Multiple Carboxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency31.2HLCS, BTD
2holocarboxylase synthetase deficiency31.2HLCS, BTD
3lactic acidosis30.4PC, BTD
4biotin deficiency10.9
5corneal dystrophy10.7
6multiple carboxylase deficiency, biotin responsive10.4
7cortisone reductase deficiency 110.3
8alopecia10.3
9multiple carboxylase deficiency, propionic acidemia10.3
10diabetic ketoacidosis10.1
11complement deficiency10.1
12dermatitis10.1
13psoriasis10.1
14focal segmental glomerulosclerosis10.1
15kaposi's sarcoma10.1
16nephrotic syndrome10.1
17sarcoma10.1
18malonyl-coa decarboxylase deficiency10.1
19argininosuccinic aciduria10.0OTC
20citrullinemia10.0OTC
21isovaleric acidemia10.0HMGCL
22organic acidemia10.0PC, HLCS
23medium-chain acyl-coenzyme a dehydrogenase deficiency10.0ACADM, BTD
24glycogen storage disease10.0OTC, BTD
25hyperlysinemia10.0PC, OTC
26hepatitis10.0OTC
27methylmalonic acidemia10.0HMGCL, MMD
28congenital hypothyroidism10.0ACADM, BTD
29ornithine carbamoyltransferase deficiency10.0HMGCL, OTC
30phenylketonuria10.0BTD, OTC, ACADM
31congenital adrenal hyperplasia10.0ACADM, BTD
32hyperammonemia multi-gene panels10.0OTC, HMGCL, PC
33brain disease10.0BTD, PC, OTC, ACADM
34maple syrup urine disease10.0OTC, HMGCL, MMD, BTD
35propionic acidemia10.0OTC, HMGCL, MMD, HLCS
36homocystinuria10.0OTC, HMGCL, MMD, BTD
37metabolic acidosis10.0HMGCL, PC, BTD, HLCS
38reye syndrome10.0PC, HMGCL, OTC, ACADM
39fatty liver disease10.0PC, ACACA, ACADM
40metabolic syndrome x10.0HLCS, BTD, PC, OTC, ACADM
41hypoglycemia10.0HLCS, BTD, PC, HMGCL, ACADM
42macular corneal dystrophy9.9
43schmid metaphyseal chondrodysplasia9.9
44poems syndrome9.9
45multicentric castleman’s disease9.9
46metaphyseal chondrodysplasia spahr type9.9
47cortical malformations, occipital9.9

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



Diseases related to multiple carboxylase deficiency

Clinical Features for Multiple Carboxylase Deficiency

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Sources:
48Orphanet
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Symptoms:

48 (show all 17)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of the immunitary system
  • autosomal recessive inheritance
  • anomalies of eyes and vision
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • obnubilation/coma/lethargia/desorientation
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypotonia
  • anomalies of ear and hearing
  • hearing loss/hypoacusia/deafness
  • anomalies of skin, subcutaneous tissue and mucosae
  • hairy patch
  • cutaneous rash
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • hair and scalp anomalies
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis

Drugs & Therapeutics for Multiple Carboxylase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Multiple Carboxylase Deficiency

Drug clinical trials:

Search ClinicalTrials for Multiple Carboxylase Deficiency

Search NIH Clinical Center for Multiple Carboxylase Deficiency

Search CenterWatch for Multiple Carboxylase Deficiency

Genetic Tests for Multiple Carboxylase Deficiency

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Anatomical Context for Multiple Carboxylase Deficiency

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Sources:
32MalaCards
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MalaCards organs/tissues related to Multiple Carboxylase Deficiency:

32
Skin, Eye, Liver, Brain

Animal Models for Multiple Carboxylase Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Multiple Carboxylase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ACADM, ACACA, OTC, HMGCL

Publications for Multiple Carboxylase Deficiency

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Sources:
50PubMed
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Articles related to Multiple Carboxylase Deficiency:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Gene mutation analyses in Chinese children with multiple carboxylase deficiency]. (19806568)
2009
2
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (18429047)
2008
3
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
4
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
5
Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. (17274881)
2006
6
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. (14613969)
2004
7
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. (15456772)
2004
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
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
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy. (9061576)
1997
14
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. (8817339)
1996
15
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. (8517616)
1993
16
Neonatal form of biotin-responsive multiple carboxylase deficiency. (1297821)
1992
17
Fatty acid transport in multiple carboxylase deficiency fibroblasts. (2123277)
1990
18
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. (2501583)
1989
19
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. (2663376)
1989
20
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. (3148068)
1988
21
Multiple carboxylase deficiency. (3284772)
1988
22
Multiple carboxylase deficiency due to deficiency of biotinidase. (3783319)
1986
23
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. (3920902)
1985
24
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. (3930851)
1985
25
Prenatal treatment of multiple carboxylase deficiency. (3925857)
1985
26
Lipid metabolism in biotin-responsive multiple carboxylase deficiency. (2878112)
1985
27
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin. (6434862)
1984
28
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. (6141728)
1984
29
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. (6828095)
1983
30
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
31
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (6848914)
1983
32
Deficient liver biotinidase activity in multiple carboxylase deficiency. (6135889)
1983
33
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. (6212592)
1982
34
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. (6799930)
1982
35
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. (6811711)
1982
36
Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies. (6133032)
1982
37
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. (6807281)
1982
38
Organic aciduria in neonatal multiple carboxylase deficiency. (6820414)
1982
39
Prenatal treatment of biotin responsive multiple carboxylase deficiency. (6123722)
1982
40
Protein-bound biotin: a consideration in multiple carboxylase deficiency. (6119473)
1982
41
Defective biotin absorption in multiple carboxylase deficiency. (6114319)
1981
42
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. (6112081)
1981
43
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (6798072)
1981
44
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. (7198043)
1981
45
Biotin-responsive multiple carboxylase deficiency of infantile onset. (7264799)
1981
46
Two forms of biotin-responsive multiple carboxylase deficiency. (6790844)
1981
47
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. (6794361)
1981
48
The neonatal form of biotin-responsive multiple carboxylase deficiency. (7264798)
1981
49
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. (6787561)
1981
50
Fatty-acid-responsive alopecia in multiple carboxylase deficiency. (6103410)
1980

Genetic Variations for Multiple Carboxylase Deficiency

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Expression for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Carboxylase Deficiency

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

Pathways for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Multiple Carboxylase Deficiency

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Sources:
44Novoseek, 49PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1multivitamin4410.1BTD, HLCS
2acetyl-l-carnitine449.9ACADM, OTC
3bamhi449.9ACADM, OTC
4streptavidin449.8BTD, RPE
5phenylacetic acid49 44 2411.7PC, OTC
6valproic acid44 49 11 2412.7ACADM, OTC, BTD
7carbamoyl phosphate449.7PC, OTC
8citrulline44 2410.7OTC, PC
93-hydroxy-3-methylglutaryl-coa44 2410.6HMGCL, ACACA
10alpha lipoic acid449.6PC, BTD
11malate449.4PC, OTC
12s-adenosylmethionine44 11 2411.4HLCS, PC, ACADM
13glycerol 3-phosphate44 2410.3ACACA, PC
14palmitate449.2ACADM, ACACA, PC
15phosphoenolpyruvate44 1110.2OTC, PC
163-methylcrotonyl-coa44 2410.2HLCS, BTD, PC, ACADM
17glutamine449.1ACADM, OTC, PC
18leucine449.0ACACA, OTC, HMGCL, HLCS
19biotin44 11 2411.0HLCS, BTD, PC, ACACA
20glycogen44 2410.0BTD, PC, OTC, ACACA
21pyruvate449.0ACACA, OTC, PC, HLCS
22lysine448.7HLCS, BTD, PC, OTC, ACADM
23carnitine448.6HLCS, PC, OTC, ACACA, ACADM
24glucose448.5BTD, PC, OTC, ACACA, ACADM
25acetyl-coa44 249.5HLCS, PC, HMGCL, ACACA, ACADM
26acyl-coa448.3ACADM, ACACA, OTC, PC, BTD, HLCS
27fatty acid448.2HLCS, BTD, PC, OTC, ACACA, ACADM
28lactate448.2HLCS, BTD, PC, OTC, ACACA, ACADM

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

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16Gene Ontology
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Cellular components related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.0OTC, HMGCL, PC
2mitochondrial matrixGO:0057598.3PC, HMGCL, OTC, ACADM
3mitochondrionGO:0057397.6ACADM, ACACA, OTC, HMGCL, PC, HLCS

Biological processes related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to biotinGO:0707819.8OTC, HLCS
2response to starvationGO:0425949.6ACADM, HMGCL
3liver developmentGO:0018899.1HMGCL, OTC, ACADM
4biotin metabolic processGO:0067688.8ACACA, PC, BTD, HLCS
5cellular lipid metabolic processGO:0442558.8ACADM, ACACA, HMGCL
6water-soluble vitamin metabolic processGO:0067678.8HLCS, BTD, PC, ACACA
7vitamin metabolic processGO:0067668.7ACACA, PC, BTD, HLCS
8small molecule metabolic processGO:0442817.1RPE, HLCS, BTD, PC, HMGCL, OTC

Molecular functions related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1biotin bindingGO:0093749.5PC, HLCS
2biotin carboxylase activityGO:0040758.7ACACA, PC, BTD

Products for genes affiliated with Multiple Carboxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Carboxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet