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

Aliases & Descriptions for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 54 50 24 25 56 66 13 69
Cact Deficiency 24 25 56 66
Carnitine Acylcarnitine Translocase Deficiency 25 29
Carnitine-Acylcarnitine Carrier Deficiency 25
Cactd 66

Characteristics:

Orphanet epidemiological data:

56
carnitine-acylcarnitine translocase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
carnitine-acylcarnitine translocase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 212138
Orphanet 56 ORPHA159
UMLS via Orphanet 70 C0342791
ICD10 via Orphanet 34 E71.3
MedGen 40 C0342791
MeSH 42 D008052

Summaries for Carnitine-Acylcarnitine Translocase Deficiency

NIH Rare Diseases : 50 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 seizures, muscle weakness and lethargy. An important gene associated with Carnitine-Acylcarnitine Translocase Deficiency is SLC25A20 (Solute Carrier Family 25 Member 20), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and AMPK Enzyme Complex Pathway. The drug carnitine has been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skeletal muscle.

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

UniProtKB/Swiss-Prot : 66 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

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 cardiac arrest 10.1
2 pre-eclampsia 10.1
3 eclampsia 10.1
4 hypoglycemia 10.1
5 cardiomyopathy 10.1
6 cystinosis, ocular nonnephropathic 9.9 CPT2 SLC25A20
7 deafness, autosomal dominant 52 9.8 CPT2 SLC25A20
8 zygodactyly 1 9.6 CPT1A CPT2 SLC25A20
9 encephalopathy, acute, infection-induced, 4 9.6 CPT1A CPT2 SLC25A20
10 van maldergem syndrome 9.6 CPT1A CPT2 SLC25A20
11 fibular hypoplasia 9.6 CPT1A CPT2 SLC25A20

Graphical network of the top 20 diseases related to Carnitine-Acylcarnitine Translocase Deficiency:



Diseases related to Carnitine-Acylcarnitine Translocase Deficiency

Symptoms & Phenotypes for Carnitine-Acylcarnitine Translocase Deficiency

Symptoms by clinical synopsis from OMIM:

212138

Clinical features from OMIM:

212138

Human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscle weakness 32 HP:0001324
3 lethargy 32 HP:0001254
4 muscular hypotonia 32 HP:0001252
5 hypotension 32 HP:0002615
6 hepatomegaly 32 HP:0002240
7 atrioventricular block 32 HP:0001678
8 elevated serum creatine phosphokinase 32 HP:0003236
9 hypoglycemia 32 HP:0001943
10 irritability 32 HP:0000737
11 elevated hepatic transaminases 32 HP:0002910
12 cardiomyopathy 32 HP:0001638
13 coma 32 HP:0001259
14 hyperammonemia 32 HP:0001987
15 ventricular tachycardia 32 HP:0004756
16 ventricular extrasystoles 32 HP:0006682
17 ventricular hypertrophy 32 HP:0001714
18 cardiorespiratory arrest 32 HP:0006543
19 bradycardia 32 HP:0001662
20 rhabdomyolysis 32 HP:0003201
21 dicarboxylic aciduria 32 HP:0003215

UMLS symptoms related to Carnitine-Acylcarnitine Translocase Deficiency:


lethargy, seizures

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies. Enrolling by invitation NCT02214160 Phase 2

Search NIH Clinical Center for Carnitine-Acylcarnitine Translocase Deficiency

Genetic Tests for Carnitine-Acylcarnitine Translocase Deficiency

Genetic tests related to Carnitine-Acylcarnitine Translocase Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Acylcarnitine Translocase Deficiency 29
2 Carnitine-Acylcarnitine Translocase Deficiency 24 SLC25A20

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

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

39
Liver, Heart, Skeletal Muscle, Testes

Publications for Carnitine-Acylcarnitine Translocase Deficiency

Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show all 31)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

66
id Symbol AA change Variation ID SNP ID
1 SLC25A20 p.Arg133Trp VAR_021818 rs748394731
2 SLC25A20 p.Asp231His VAR_021819 rs577331691
3 SLC25A20 p.Gln238Arg VAR_021820 rs28934589

ClinVar genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A20 NM_000387.5(SLC25A20): c.897dupC (p.Asn300Glnfs) duplication Pathogenic rs587776759 GRCh37 Chromosome 3, 48895152: 48895152
2 SLC25A20 NM_000387.5(SLC25A20): c.199_326del128 (p.Gly67Leufs) deletion Pathogenic GRCh38 Chromosome 3, 48883997: 48884124
3 SLC25A20 SLC25A20, 110-BP DEL deletion Pathogenic
4 SLC25A20 NM_000387.5(SLC25A20): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs151340616 GRCh37 Chromosome 3, 48900014: 48900014
5 SLC25A20 NM_000387.5(SLC25A20): c.84delT (p.His29Thrfs) deletion Pathogenic rs587776760 GRCh37 Chromosome 3, 48936144: 48936144
6 SLC25A20 NM_000387.5(SLC25A20): c.199-10T> G single nucleotide variant Pathogenic rs541208710 GRCh37 Chromosome 3, 48921567: 48921567
7 SLC25A20 NM_000387.5(SLC25A20): c.713A> G (p.Gln238Arg) single nucleotide variant Pathogenic rs28934589 GRCh37 Chromosome 3, 48896530: 48896530
8 SLC25A20 NM_000387.5(SLC25A20): c.576G> A (p.Trp192Ter) single nucleotide variant Pathogenic rs587777286 GRCh37 Chromosome 3, 48897020: 48897020
9 SLC25A20 NM_000387.5(SLC25A20): c.106-2A> T single nucleotide variant Pathogenic rs587777287 GRCh37 Chromosome 3, 48929507: 48929507
10 SLC25A20 NM_000387.5(SLC25A20): c.326+1delG deletion Pathogenic/Likely pathogenic rs757552268 GRCh37 Chromosome 3, 48921429: 48921429

Expression for Carnitine-Acylcarnitine Translocase Deficiency

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

Pathways for Carnitine-Acylcarnitine Translocase Deficiency

GO Terms for Carnitine-Acylcarnitine Translocase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 CPT1A CPT2 SLC25A20
2 mitochondrial inner membrane GO:0005743 8.8 CPT1A CPT2 SLC25A20

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.5 CPT1A CPT2 SLC25A20
2 lipid metabolic process GO:0006629 9.37 CPT1A CPT2
3 fatty acid metabolic process GO:0006631 9.26 CPT1A CPT2
4 regulation of lipid metabolic process GO:0019216 9.16 CPT1A CPT2
5 fatty acid beta-oxidation GO:0006635 8.96 CPT1A CPT2
6 carnitine shuttle GO:0006853 8.8 CPT1A CPT2 SLC25A20

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.96 CPT1A CPT2
2 carnitine O-palmitoyltransferase activity GO:0004095 8.62 CPT1A CPT2

Sources for Carnitine-Acylcarnitine Translocase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....