CACTD
MCID: CRN041
MIFTS: 43

Carnitine-Acylcarnitine Translocase Deficiency (CACTD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

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Aliases & Descriptions for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 52 48 24 25 54 70 12 68
Cact Deficiency 24 25 54 70
Carnitine Acylcarnitine Translocase Deficiency 25 27
 
Carnitine-Acylcarnitine Carrier Deficiency 25
Cactd 70

Characteristics:

Orphanet epidemiological data:

54
carnitine-acylcarnitine translocase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

64
carnitine-acylcarnitine translocase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 212138
Orphanet54 ORPHA159
UMLS via Orphanet69 C0342791
ICD10 via Orphanet31 E71.3
MedGen37 C0342791
MeSH39 D008052

Summaries for Carnitine-Acylcarnitine Translocase Deficiency

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NIH Rare Diseases:48 Carnitine-acylcarnitine translocase (cact) deficiency is a disease 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 (cact) that disrupts carnitine's role in processing long-chain fatty acids. there are two forms of carnitine-acylcarnitine translocase deficiency. the most common type is severe and happens in newborns. a milder, less common type happens in older infants and children. most patients with cact deficiency have a severe disease presenting within the first 48 hours of life as low blood sugar with ketonic bodies (hypoketotic hypoglycemia), high ammonia (hyperammonemia) levels in the blood, increased heart muscle (cardiomyopathy), and abnormal heart rhythm (arrhythmias), as well as skeletal muscle damage, liver problems, and low temperature (hypothermia). neurological involvement, seizures, and developmental delay are also present. rarely, patients present as a sudden infant death. the cact deficiency is caused by mutations in the slc25a20 gene. treatment is done by avoiding fasting and having a low long-chain fat diet with medium chain triglyceride (mct) supplementation.  carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder.  last updated: 5/3/2017

MalaCards based summary: Carnitine-Acylcarnitine Translocase Deficiency, also known as cact deficiency, is related to cardiac arrest and pre-eclampsia, and has symptoms including lethargy, lethargy and seizures. An important gene associated with Carnitine-Acylcarnitine Translocase Deficiency is SLC25A20 (Solute Carrier Family 25 Member 20), and among its related pathways are Fatty acid metabolism and PPAR Alpha Pathway. Affiliated tissues include liver, skeletal muscle and heart.

Genetics Home Reference:25 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).

OMIM:52 Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty... (212138) more...

UniProtKB/Swiss-Prot:70 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:71 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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cardiac arrest10.1
2pre-eclampsia10.1
3eclampsia10.1
4hypoglycemia10.1
5cardiomyopathy10.1
6cystinosis, ocular nonnephropathic9.9CPT2, SLC25A20
7deafness, autosomal dominant 529.8CPT2, SLC25A20
8zygodactyly 19.6CPT1A, CPT2, SLC25A20
9encephalopathy, acute, infection-induced, 49.6CPT1A, CPT2, SLC25A20
10van maldergem syndrome9.6CPT1A, CPT2, SLC25A20
11fibular hypoplasia9.6CPT1A, CPT2, SLC25A20

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



Diseases related to carnitine-acylcarnitine translocase deficiency

Symptoms & Phenotypes for Carnitine-Acylcarnitine Translocase Deficiency

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Symptoms by clinical synopsis from OMIM:

212138

Clinical features from OMIM:

212138

Human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

 64 (show all 21)
id Description HPO Frequency HPO Source Accession
1 irritability64 HP:0000737
2 seizures64 HP:0001250
3 muscular hypotonia64 HP:0001252
4 lethargy64 HP:0001254
5 coma64 HP:0001259
6 muscle weakness64 HP:0001324
7 cardiomyopathy64 HP:0001638
8 bradycardia64 HP:0001662
9 atrioventricular block64 HP:0001678
10 ventricular hypertrophy64 HP:0001714
11 hypoglycemia64 HP:0001943
12 hyperammonemia64 HP:0001987
13 hepatomegaly64 HP:0002240
14 hypotension64 HP:0002615
15 elevated hepatic transaminases64 HP:0002910
16 rhabdomyolysis64 HP:0003201
17 dicarboxylic aciduria64 HP:0003215
18 elevated serum creatine phosphokinase64 HP:0003236
19 ventricular tachycardia64 HP:0004756
20 cardiorespiratory arrest64 HP:0006543
21 ventricular extrasystoles64 HP:0006682

UMLS symptoms related to Carnitine-Acylcarnitine Translocase Deficiency:


lethargy, seizures

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 2162

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 Deficiency27
2 Carnitine-Acylcarnitine Translocase Deficiency24 SLC25A20

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

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

36
Liver, Skeletal muscle, Heart, Testes

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
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. (17277394)
2007
6
Prospective treatment in carnitine-acylcarnitine translocase deficiency. (17508264)
2007
7
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. (17578469)
2007
8
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. (15159657)
2004
9
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (15365988)
2004
10
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. (15363639)
2004
11
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. (12559850)
2003
12
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. (12801121)
2003
13
Carnitine acylcarnitine translocase deficiency]. (12013981)
2002
14
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. (11271379)
2001
15
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. (11350184)
2001
16
Carnitine acylcarnitine translocase deficiency]. (11596450)
2001
17
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. (11826365)
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
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. (10472533)
1999
23
Carnitine-acylcarnitine translocase deficiency is a treatable disease. (10384385)
1999
24
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (9544911)
1998
25
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. (9290607)
1997
26
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. (9323572)
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
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. (7807931)
1994
30
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. (8054358)
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:

70
id Symbol AA change Variation ID SNP ID
1SLC25A20p.Arg133TrpVAR_021818rs748394731
2SLC25A20p.Asp231HisVAR_021819rs577331691
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)SNVPathogenicrs151340616GRCh37Chr 3, 48900014: 48900014
5SLC25A20NM_ 000387.5(SLC25A20): c.84delT (p.His29Thrfs)deletionPathogenicrs587776760GRCh37Chr 3, 48936144: 48936144
6SLC25A20NM_ 000387.5(SLC25A20): c.199-10T> GSNVPathogenicrs541208710GRCh37Chr 3, 48921567: 48921567
7SLC25A20NM_ 000387.5(SLC25A20): c.713A> G (p.Gln238Arg)SNVPathogenicrs28934589GRCh37Chr 3, 48896530: 48896530
8SLC25A20NM_ 000387.5(SLC25A20): c.576G> A (p.Trp192Ter)SNVPathogenicrs587777286GRCh37Chr 3, 48897020: 48897020
9SLC25A20NM_ 000387.5(SLC25A20): c.106-2A> TSNVPathogenicrs587777287GRCh37Chr 3, 48929507: 48929507
10SLC25A20NM_ 000387.5(SLC25A20): c.326+1delGdeletionPathogenic/ Likely pathogenicrs757552268GRCh37Chr 3, 48921429: 48921429

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:00057439.2CPT1A, 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:00066359.9CPT1A, CPT2
2fatty acid metabolic processGO:00066319.9CPT1A, CPT2
3lipid metabolic processGO:00066299.9CPT1A, CPT2
4regulation of lipid metabolic processGO:00192169.9CPT1A, CPT2
5carnitine shuttleGO:00068539.3CPT1A, CPT2, SLC25A20
6transportGO:00068108.5CPT1A, CPT2, SLC25A20

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

idNameGO IDScoreTop Affiliating Genes
1carnitine O-palmitoyltransferase activityGO:00040959.7CPT1A, CPT2
2transferase activity, transferring acyl groupsGO:00167469.1CPT1A, CPT2

Sources for Carnitine-Acylcarnitine Translocase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet