MCID: CRN041
MIFTS: 41

Carnitine-Acylcarnitine Translocase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Carnitine-Acylcarnitine Translocase Deficiency, Aliases & Descriptions:

Name: Carnitine-Acylcarnitine Translocase Deficiency 45 10 41 20 21 47 60
Cact Deficiency 41 21 47
 
Carnitine Acylcarnitine Translocase Deficiency 21 22
Carnitine-Acylcarnitine Carrier Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
carnitine-acylcarnitine translocase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM45 212138
Orphanet47 159
ICD10 via Orphanet26 E71.3
UMLS via Orphanet61 C0342791

Summaries for Carnitine-Acylcarnitine Translocase Deficiency

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OMIM:45 Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty... (212138) more...

MalaCards based summary: Carnitine-Acylcarnitine Translocase Deficiency, also known as cact deficiency, is related to hypoglycemia and eclampsia, and has symptoms including autosomal recessive inheritance, irritability and seizures. 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 liver, heart and skeletal muscle.

Genetics Home Reference:21 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).

NIH Rare Diseases:41 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

Wikipedia:63 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Related Diseases for Carnitine-Acylcarnitine Translocase Deficiency

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Diseases related to Carnitine-Acylcarnitine Translocase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.3SLC25A20, CPT1A
2eclampsia10.5
3pre-eclampsia10.5
4congenital heart disease9.9SLC25A20, CPT1A

Symptoms for Carnitine-Acylcarnitine Translocase Deficiency

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Symptoms by clinical synopsis from OMIM:

212138

Clinical features from OMIM:

212138

HPO human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 irritability HP:0000737
3 seizures HP:0001250
4 lethargy HP:0001254
5 coma HP:0001259
6 muscle weakness HP:0001324
7 cardiomyopathy HP:0001638
8 bradycardia HP:0001662
9 atrioventricular block HP:0001678
10 ventricular hypertrophy HP:0001714
11 hypoglycemia HP:0001943
12 hyperammonemia HP:0001987
13 hepatomegaly HP:0002240
14 hypotension HP:0002615
15 elevated hepatic transaminases HP:0002910
16 rhabdomyolysis HP:0003201
17 dicarboxylic aciduria HP:0003215
18 elevated serum creatine phosphokinase HP:0003236
19 ventricular tachycardia HP:0004756
20 cardiorespiratory arrest HP:0006543
21 ventricular extrasystoles HP:0006682

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Carnitine-Acylcarnitine Translocase Deficiency

Search NIH Clinical Center for Carnitine-Acylcarnitine Translocase Deficiency

Genetic Tests for Carnitine-Acylcarnitine Translocase Deficiency

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Genetic tests related to Carnitine-Acylcarnitine Translocase Deficiency:

id Genetic test Affiliating Genes
1 Carnitine-Acylcarnitine Translocase Deficiency20 SLC25A20
2 Carnitine Acylcarnitine Translocase Deficiency22

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

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

31
Liver, Heart, Skeletal muscle, 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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Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show all 30)
idTitleAuthorsYear
1
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. (25614308)
2015
2
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. (25459972)
2014
3
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. (21301774)
2011
4
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. (20714679)
2010
5
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. (17578469)
2007
6
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. (17277394)
2007
7
Prospective treatment in carnitine-acylcarnitine translocase deficiency. (17508264)
2007
8
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. (15159657)
2004
9
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. (15363639)
2004
10
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (15365988)
2004
11
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. (12801121)
2003
12
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. (12559850)
2003
13
Carnitine acylcarnitine translocase deficiency]. (12013981)
2002
14
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. (11350184)
2001
15
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. (11826365)
2001
16
Carnitine acylcarnitine translocase deficiency]. (11596450)
2001
17
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. (11592821)
2001
18
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. (10876004)
2000
19
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. (10653336)
2000
20
Carnitine-acylcarnitine translocase deficiency. (10408757)
1999
21
Carnitine-acylcarnitine translocase deficiency is a treatable disease. (10384385)
1999
22
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. (10472533)
1999
23
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (9544911)
1998
24
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. (9323572)
1997
25
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. (9290607)
1997
26
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. (8739960)
1996
27
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. (7564255)
1995
28
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. (8054358)
1994
29
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. (7807931)
1994
30
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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UniProtKB/Swiss-Prot genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

62
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:

6
id Gene Variation 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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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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Compounds for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
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Compounds related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1pristanic acid43 28 2411.3SLC25A20, CPT1A
2L-Carnitine24 1210.3SLC25A20, CPT1A
3carnitine439.2SLC25A20, CPT1A
4acyl-coa439.2SLC25A20, CPT1A
5s-adenosylmethionine43 24 1211.1CPT1A, SLC25A20
6lipid439.1SLC25A20, CPT1A
7fatty acid439.0SLC25A20, CPT1A
8glucose438.8SLC25A20, CPT1A

GO Terms for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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Cellular components related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057399.1SLC25A20, CPT1A
2mitochondrial inner membraneGO:00057438.8SLC25A20, CPT1A

Biological processes related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442819.1SLC25A20, CPT1A
2carnitine shuttleGO:00068539.0SLC25A20, CPT1A
3cellular lipid metabolic processGO:00442558.8SLC25A20, CPT1A

Products for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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Sources for Carnitine-Acylcarnitine Translocase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet