MCID: CRN041
MIFTS: 43

Carnitine-Acylcarnitine Translocase Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Carnitine-Acylcarnitine Translocase Deficiency

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44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. people with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. there are two forms of carnitine-acylcarnitine translocase deficiency. the most common type happens in newborns. a milder, less common type happens in older infants and children. last updated: 7/26/2013

MalaCards: Carnitine-Acylcarnitine Translocase Deficiency, also known as carnitine acylcarnitine translocase deficiency, is related to hypoglycemia and eclampsia. An important gene associated with Carnitine-Acylcarnitine Translocase Deficiency is SLC25A20 (solute carrier family 25 (carnitine/acylcarnitine translocase), member 20), and among its related pathways are Metabolism and Fatty acid, triacylglycerol, and ketone body metabolism. The compounds pristanic acid and L-Carnitine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and testes.

Genetics Home Reference:22 Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).

Wikipedia:66 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Description from OMIM:48 212138

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
carnitine-acylcarnitine translocase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

carnitine-acylcarnitine translocase deficiency 44 21 23 22 48 50
carnitine acylcarnitine translocase deficiency 22 63
cact deficiency 22 50
carnitine-acylcarnitine carrier deficiency 22


External Ids:

OMIM48 212138
ICD10 via Orphanet27 E71.3
SNOMED-CT via Orphanet60 238003000
UMLS via Orphanet64 C0342791

Related Diseases for Carnitine-Acylcarnitine Translocase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Carnitine-Acylcarnitine Translocase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.6SLC25A20, CPT1A
2eclampsia10.5
3pre-eclampsia10.5
4congenital heart disease10.0SLC25A20, CPT1A

Symptoms for Carnitine-Acylcarnitine Translocase Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

212138

Clinical features from OMIM:

212138

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Carnitine-Acylcarnitine Translocase Deficiency

Search CenterWatch for Carnitine-Acylcarnitine Translocase Deficiency

Genetic Tests for Carnitine-Acylcarnitine Translocase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Carnitine-Acylcarnitine Translocase Deficiency:

id Genetic test Affiliating Genes
1 Carnitine-Acylcarnitine Translocase Deficiency21 SLC25A20
2 Carnitine Acylcarnitine Translocase Deficiency23

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Carnitine-Acylcarnitine Translocase Deficiency:

34
Skeletal muscle, Liver, Testes

Animal Models for Carnitine-Acylcarnitine Translocase Deficiency or affiliated genes

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Publications for Carnitine-Acylcarnitine Translocase Deficiency

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53PubMed
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Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show all 28)
idTitleAuthorsYear
1
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. (21301774)
2011
2
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. (20714679)
2010
3
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. (17578469)
2007
4
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. (17277394)
2007
5
Prospective treatment in carnitine-acylcarnitine translocase deficiency. (17508264)
2007
6
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. (15159657)
2004
7
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. (15363639)
2004
8
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (15365988)
2004
9
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. (12801121)
2003
10
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. (12559850)
2003
11
Carnitine acylcarnitine translocase deficiency]. (12013981)
2002
12
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. (11350184)
2001
13
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. (11826365)
2001
14
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. (11271379)
2001
15
Carnitine acylcarnitine translocase deficiency]. (11596450)
2001
16
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. (11592821)
2001
17
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. (10876004)
2000
18
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. (10653336)
2000
19
Carnitine-acylcarnitine translocase deficiency. (10408757)
1999
20
Carnitine-acylcarnitine translocase deficiency is a treatable disease. (10384385)
1999
21
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. (10472533)
1999
22
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (9544911)
1998
23
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. (9290607)
1997
24
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. (8739960)
1996
25
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. (7564255)
1995
26
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. (8054358)
1994
27
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. (7807931)
1994
28
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. (8450053)
1993

Variations for Carnitine-Acylcarnitine Translocase Deficiency

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

65
id Symbol AA change Variation ID SNP ID
1SLC25A20p.Arg133TrpVAR_021818
2SLC25A20p.Asp231HisVAR_021819
3SLC25A20p.Gln238ArgVAR_021820rs28934589

Clinvar genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC25A20NM_000387.5(SLC25A20): c.897dupC (p.Asn300Glnfs)duplicationPathogenicGRCh37Chr 3, 48895152: 48895152
2SLC25A20NM_000387.5(SLC25A20): c.199_326del128 (p.Gly67Leufs)deletionPathogenicGRCh38Chr 3, 48883997: 48884124
3SLC25A20SLC25A20, 110-BP DELdeletionPathogenic
4SLC25A20NM_000387.5(SLC25A20): c.496C> T (p.Arg166Ter)single nucleotide variantPathogenicrs151340616GRCh37Chr 3, 48900014: 48900014
5SLC25A20NM_000387.5(SLC25A20): c.84delT (p.His29Thrfs)deletionPathogenicGRCh38Chr 3, 48898711: 48898711
6SLC25A20NM_000387.5(SLC25A20): c.199-10T> Gsingle nucleotide variantPathogenicGRCh37Chr 3, 48921567: 48921567
7SLC25A20NM_000387.5(SLC25A20): c.713A> G (p.Gln238Arg)single nucleotide variantPathogenicrs28934589GRCh37Chr 3, 48896530: 48896530
8SLC25A20NM_000387.5(SLC25A20): c.576G> A (p.Trp192Ter)single nucleotide variantPathogenicGRCh37Chr 3, 48897020: 48897020
9SLC25A20NM_000387.5(SLC25A20): c.106-2A> Tsingle nucleotide variantPathogenicGRCh37Chr 3, 48929507: 48929507

Expression for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

Search GEO for disease gene expression data for Carnitine-Acylcarnitine Translocase Deficiency.

Pathways for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Compounds for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pristanic acid46 30 2511.3CPT1A, SLC25A20
2L-Carnitine25 1210.3CPT1A, SLC25A20
3carnitine469.2CPT1A, SLC25A20
4acyl-coa469.2SLC25A20, CPT1A
5s-adenosylmethionine46 25 1211.1CPT1A, SLC25A20
6lipid469.1CPT1A, SLC25A20
7fatty acid469.0SLC25A20, CPT1A
8glucose468.8CPT1A, SLC25A20

GO Terms for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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17Gene Ontology
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Cellular components related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1SLC25A20, CPT1A
2mitochondrial inner membraneGO:0057438.8SLC25A20, CPT1A

Biological processes related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1SLC25A20, CPT1A
2carnitine shuttleGO:0068539.0SLC25A20, CPT1A
3cellular lipid metabolic processGO:0442558.8SLC25A20, CPT1A

Products for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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Sources for Carnitine-Acylcarnitine Translocase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet