MCID: CRN041
MIFTS: 43

Carnitine-Acylcarnitine Translocase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Carnitine-Acylcarnitine Translocase Deficiency

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NIH Rare Diseases:42 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 based summary: Carnitine-Acylcarnitine Translocase Deficiency, also known as carnitine acylcarnitine translocase deficiency, is related to hypoglycemia and eclampsia, and has symptoms including 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).

Wikipedia:65 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Description from OMIM:46 212138

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Carnitine-Acylcarnitine Translocase Deficiency, Aliases & Descriptions:

Name: Carnitine-Acylcarnitine Translocase Deficiency 42 20 22 21 46 48
Carnitine Acylcarnitine Translocase Deficiency 21 62
 
Carnitine-Acylcarnitine Carrier Deficiency 21 62
Cact Deficiency 21 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
carnitine-acylcarnitine translocase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

OMIM46 212138
ICD10 via Orphanet26 E71.3
UMLS via Orphanet63 C0342791

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/GeneDecks 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:

32
Liver, Heart, Skeletal muscle

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 27)
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
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. (10653336)
2000
18
Carnitine-acylcarnitine translocase deficiency. (10408757)
1999
19
Carnitine-acylcarnitine translocase deficiency is a treatable disease. (10384385)
1999
20
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (9544911)
1998
21
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. (9323572)
1997
22
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. (9290607)
1997
23
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. (8739960)
1996
24
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. (7564255)
1995
25
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. (8054358)
1994
26
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. (7807931)
1994
27
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:

64
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 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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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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Compounds for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pristanic acid44 28 2411.3SLC25A20, CPT1A
2L-Carnitine24 1110.3SLC25A20, CPT1A
3carnitine449.2SLC25A20, CPT1A
4acyl-coa449.2SLC25A20, CPT1A
5s-adenosylmethionine44 24 1111.1CPT1A, SLC25A20
6lipid449.1SLC25A20, CPT1A
7fatty acid449.0SLC25A20, CPT1A
8glucose448.8SLC25A20, 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/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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  • Antibodies
  • Proteins
  • Lysates

Sources for Carnitine-Acylcarnitine Translocase 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet