MCID: CRN041
MIFTS: 43

Carnitine-Acylcarnitine Translocase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 49 11 45 22 23 51 65 67
Cact Deficiency 22 23 51 67
Carnitine Acylcarnitine Translocase Deficiency 23 24
 
Carnitine-Acylcarnitine Carrier Deficiency 23
Cactd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
carnitine-acylcarnitine translocase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM49 212138
Orphanet51 159
ICD10 via Orphanet28 E71.3
UMLS via Orphanet66 C0342791
MedGen34 C0342791
MeSH36 D008052

Summaries for Carnitine-Acylcarnitine Translocase Deficiency

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OMIM:49 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 eclampsia and hypoglycemia, 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 Fatty acid metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include liver, skeletal muscle and heart.

Genetics Home Reference:23 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:45 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

UniProtKB/Swiss-Prot:67 Carnitine-acylcarnitine translocase deficiency: A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.

Wikipedia:68 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Related Diseases for Carnitine-Acylcarnitine Translocase Deficiency

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Graphical network of diseases related to Carnitine-Acylcarnitine Translocase Deficiency:



Diseases related to carnitine-acylcarnitine translocase deficiency

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 22)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 irritability HP:0000737
3 seizures HP:0001250
4 muscular hypotonia HP:0001252
5 lethargy HP:0001254
6 coma HP:0001259
7 muscle weakness HP:0001324
8 cardiomyopathy HP:0001638
9 bradycardia HP:0001662
10 atrioventricular block HP:0001678
11 ventricular hypertrophy HP:0001714
12 hypoglycemia HP:0001943
13 hyperammonemia HP:0001987
14 hepatomegaly HP:0002240
15 hypotension HP:0002615
16 elevated hepatic transaminases HP:0002910
17 rhabdomyolysis HP:0003201
18 dicarboxylic aciduria HP:0003215
19 elevated serum creatine phosphokinase HP:0003236
20 ventricular tachycardia HP:0004756
21 cardiorespiratory arrest HP:0006543
22 ventricular extrasystoles HP:0006682

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

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Drugs for Carnitine-Acylcarnitine Translocase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1carnitineNutraceuticalPhase 2138

Interventional clinical trials:

idNameStatusNCT IDPhase
1Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2

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 Deficiency22 SLC25A20
2 Carnitine Acylcarnitine Translocase Deficiency24

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

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

33
Liver, Skeletal muscle, Heart, 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 31)
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: phenotype, residual enzyme activity and outcome. (11271379)
2001
17
Carnitine acylcarnitine translocase deficiency]. (11596450)
2001
18
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. (11592821)
2001
19
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. (10876004)
2000
20
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. (10653336)
2000
21
Carnitine-acylcarnitine translocase deficiency. (10408757)
1999
22
Carnitine-acylcarnitine translocase deficiency is a treatable disease. (10384385)
1999
23
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. (10472533)
1999
24
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (9544911)
1998
25
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. (9323572)
1997
26
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. (9290607)
1997
27
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. (8739960)
1996
28
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. (7564255)
1995
29
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. (8054358)
1994
30
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. (7807931)
1994
31
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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC25A20NM_000387.5(SLC25A20): c.897dupC (p.Asn300Glnfs)duplicationPathogenicrs587776759GRCh37Chr 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)deletionPathogenicrs587776760GRCh37Chr 3, 48936144: 48936144
6SLC25A20NM_000387.5(SLC25A20): c.199-10T> Gsingle nucleotide variantPathogenicrs541208710GRCh37Chr 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 variantPathogenicrs587777286GRCh37Chr 3, 48897020: 48897020
9SLC25A20NM_000387.5(SLC25A20): c.106-2A> Tsingle nucleotide variantPathogenicrs587777287GRCh37Chr 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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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
1mitochondrial inner membraneGO:00057438.5CPT1A, CPT2, SLC25A20
2mitochondrionGO:00057398.5CPT1A, CPT2, SLC25A20

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:00066359.6CPT1A, CPT2
2carnitine shuttleGO:00068539.0CPT1A, CPT2, SLC25A20
3cellular lipid metabolic processGO:00442558.8CPT1A, CPT2, SLC25A20
4small molecule metabolic processGO:00442818.5CPT1A, CPT2, SLC25A20

Molecular functions related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carnitine O-palmitoyltransferase activityGO:00040959.1CPT1A, CPT2
2transferase activity, transferring acyl groupsGO:00167469.1CPT1A, CPT2

Sources for Carnitine-Acylcarnitine Translocase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet