MCD
MCID: MLT018
MIFTS: 42

Multiple Carboxylase Deficiency (MCD) malady

Skin, Metabolic categories

Summaries for Multiple Carboxylase Deficiency

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
See all sources

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Wikipedia:64 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 chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis, anomalies of ear and hearing and hearing loss/hypoacusia/deafness. 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. 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

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
multiple carboxylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple carboxylase deficiency 8 10 45 49 61
macular corneal dystrophy type i 61
mcd 49


External Ids:

Disease Ontology8 DOID:857
MeSH35 D009100
MESH via Orphanet36 D009100
ICD10 via Orphanet26 E53.8
UMLS via Orphanet62 C0026755

Related Diseases for Multiple Carboxylase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency31.3BTD, HLCS
2holocarboxylase synthetase deficiency31.2HLCS, BTD
3biotin deficiency11.0
4multiple carboxylase deficiency, biotin responsive10.9
5macular dystrophy10.7
6cortisone reductase deficiency 110.3
7alopecia10.3
8multiple carboxylase deficiency, propionic acidemia10.3
9multicentric castleman’s disease10.3
10multicentric castleman disease10.3
11castleman's disease10.3
12kaposi's sarcoma10.2
13diabetic ketoacidosis10.2
14protein c deficiency10.2
15generalized pustular psoriasis10.2
16focal segmental glomerulosclerosis10.1
17n syndrome10.1
18malonyl-coa decarboxylase deficiency10.1
19argininosuccinic aciduria10.0OTC
20citrullinemia10.0OTC
21isovaleric acidemia10.0HMGCL
22medium-chain acyl-coenzyme a dehydrogenase deficiency10.0BTD, ACADM
23organic acidemia10.0PC, HLCS
24glycogen storage disease10.0OTC, BTD
25hyperlysinemia10.0OTC, PC
26hepatitis10.0OTC
27methylmalonic acidemia10.0MMD, HMGCL
28congenital hypothyroidism10.0BTD, ACADM
29ornithine carbamoyltransferase deficiency10.0HMGCL, OTC
30phenylketonuria10.0BTD, OTC, ACADM
31congenital adrenal hyperplasia10.0ACADM, BTD
32lactic acidosis10.0BTD, PC
33hyperammonemia multi-gene panels10.0OTC, PC, HMGCL
34brain disease10.0ACADM, OTC, PC, BTD
35maple syrup urine disease10.0OTC, BTD, MMD, HMGCL
36propionic acidemia10.0MMD, OTC, HMGCL, HLCS
37homocystinuria10.0BTD, MMD, HMGCL, OTC
38metabolic acidosis10.0HLCS, HMGCL, PC, BTD
39reye syndrome10.0HMGCL, ACADM, OTC, PC
40fatty liver disease10.0ACACA, PC, ACADM
41metabolic syndrome x10.0HLCS, PC, OTC, ACADM, BTD
42hypoglycemia10.0BTD, HLCS, ACADM, PC, HMGCL
43macular corneal dystrophy10.0
44schmid metaphyseal chondrodysplasia10.0
45poems syndrome10.0
46kshv inflammatory cytokine syndrome10.0
47metaphyseal chondrodysplasia spahr type10.0
48cortical malformations, occipital10.0

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



Diseases related to multiple carboxylase deficiency

Clinical Features for Multiple Carboxylase Deficiency

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 17)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • 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
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • 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

Drugs & Therapeutics for Multiple Carboxylase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Multiple Carboxylase Deficiency

Animal Models for Multiple Carboxylase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Multiple Carboxylase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ACADM, ACACA, OTC, HMGCL

Publications for Multiple Carboxylase Deficiency

Sources:
51PubMed
See all sources

Articles related to Multiple Carboxylase Deficiency:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Gene mutation analyses in Chinese children with multiple carboxylase deficiency]. (19806568)
2009
2
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. (18845537)
2008
3
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (18429047)
2008
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
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
6
Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]. (17274881)
2006
7
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. (14613969)
2004
8
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. (15456772)
2004
9
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. (15165201)
2004
10
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. (15095958)
2004
11
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. (10068510)
1999
12
Multiple carboxylase deficiency]. (9492625)
1998
13
Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. (9645047)
1998
14
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. (9350481)
1997
15
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy. (9061576)
1997
16
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. (8817339)
1996
17
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. (8517616)
1993
18
Neonatal form of biotin-responsive multiple carboxylase deficiency. (1297821)
1992
19
Fatty acid transport in multiple carboxylase deficiency fibroblasts. (2123277)
1990
20
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. (2501583)
1989
21
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. (2663376)
1989
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
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (6883721)
1983
31
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. (6886110)
1983
32
Biotinidase deficiency in juvenile multiple carboxylase deficiency. (6135890)
1983
33
Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (6848914)
1983
34
Deficient liver biotinidase activity in multiple carboxylase deficiency. (6135889)
1983
35
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. (6799930)
1982
36
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. (6811711)
1982
37
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. (7102675)
1982
38
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. (6807281)
1982
39
Organic aciduria in neonatal multiple carboxylase deficiency. (6820414)
1982
40
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. (6819258)
1982
41
Prenatal treatment of biotin responsive multiple carboxylase deficiency. (6123722)
1982
42
Defective biotin absorption in multiple carboxylase deficiency. (6114319)
1981
43
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. (6112081)
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

Expression for genes affiliated with Multiple Carboxylase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

Compounds for genes affiliated with Multiple Carboxylase Deficiency

Sources:
45Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Multiple Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1multivitamin4510.1HLCS, BTD
2acetyl-l-carnitine459.9OTC, ACADM
3bamhi459.9OTC, ACADM
4streptavidin459.8RPE, BTD
5phenylacetic acid50 45 2411.7OTC, PC
6valproic acid45 50 11 2412.7ACADM, OTC, BTD
7carbamoyl phosphate459.7OTC, PC
8citrulline45 2410.7OTC, PC
93-hydroxy-3-methylglutaryl-coa45 2410.6ACACA, HMGCL
10alpha lipoic acid459.6PC, BTD
11malate459.4OTC, PC
12s-adenosylmethionine45 11 2411.4HLCS, ACADM, PC
13glycerol 3-phosphate45 2410.3ACACA, PC
14palmitate459.2ACADM, PC, ACACA
15phosphoenolpyruvate45 1110.2PC, OTC
163-methylcrotonyl-coa45 2410.2BTD, HLCS, ACADM, PC
17glutamine459.1PC, OTC, ACADM
18leucine459.0ACACA, OTC, HMGCL, HLCS
19biotin45 11 2411.0BTD, PC, ACACA, HLCS
20glycogen45 2410.0BTD, PC, OTC, ACACA
21pyruvate459.0PC, HLCS, OTC, ACACA
22lysine458.7ACADM, PC, BTD, OTC, HLCS
23carnitine458.6HLCS, PC, OTC, ACADM, ACACA
24glucose458.5BTD, ACADM, PC, ACACA, OTC
25acetyl-coa45 249.5ACADM, ACACA, HMGCL, PC, HLCS
26acyl-coa458.3ACACA, ACADM, OTC, PC, BTD, HLCS
27fatty acid458.2ACACA, OTC, PC, BTD, HLCS, ACADM
28lactate458.2HLCS, BTD, PC, OTC, ACACA, ACADM

GO Terms for genes affiliated with Multiple Carboxylase Deficiency

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.0PC, HMGCL, OTC
2mitochondrial matrixGO:0057598.3HMGCL, OTC, ACADM, PC
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:0425949.6HMGCL, ACADM
3liver developmentGO:0018899.1ACADM, HMGCL, OTC
4biotin metabolic processGO:0067688.8ACACA, PC, BTD, HLCS
5cellular lipid metabolic processGO:0442558.8HMGCL, ACACA, ACADM
6water-soluble vitamin metabolic processGO:0067678.8HLCS, BTD, PC, ACACA
7vitamin metabolic processGO:0067668.7ACACA, PC, BTD, HLCS
8small molecule metabolic processGO:0442817.1HLCS, BTD, PC, HMGCL, OTC, ACADM

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Carboxylase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet