MCID: CRN041
MIFTS: 44

Carnitine-Acylcarnitine Translocase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

MalaCards integrated aliases for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 53 72 49 24 55 71 36 13 69
Cact Deficiency 53 24 55 71
Carnitine Acylcarnitine Translocase Deficiency 24 28
Cactd 53 71
Carnitine-Acylcarnitine Carrier Deficiency 24

Characteristics:

Orphanet epidemiological data:

55
carnitine-acylcarnitine translocase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in the neonatal period
early death may occur
later onset with a milder phenotype may also occur


HPO:

31
carnitine-acylcarnitine translocase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Carnitine-Acylcarnitine Translocase Deficiency

NIH Rare Diseases : 49 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 hypoglycemia and cardiac arrest, and has symptoms including cyanosis, seizures and muscle weakness. 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. Affiliated tissues include liver, skeletal muscle and heart, and related phenotype is cardiovascular system.

Genetics Home Reference : 24 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 : 53 Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. 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 and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo et al., 2004). (212138)

UniProtKB/Swiss-Prot : 71 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 : 72 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:

# Related Disease Score Top Affiliating Genes
1 hypoglycemia 29.2 CPT1A SLC25A20
2 cardiac arrest 10.2
3 pre-eclampsia 10.2
4 eclampsia 10.2
5 cardiogenic shock 10.2
6 carnitine deficiency, systemic primary 9.7 CPT2 SLC25A20
7 acyl-coa dehydrogenase, very long-chain, deficiency of 9.7 CPT2 SLC25A20
8 carnitine palmitoyltransferase ii deficiency, infantile 9.2 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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
lethargy
irritability
coma
hypotonia

Cardiovascular Heart:
cardiomyopathy
arrhythmias

Muscle Soft Tissue:
rhabdomyolysis
skeletal muscle damage

Metabolic Features:
hypoketotic hypoglycemia under fasting conditions

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
hyperammonemia
dicarboxylic aciduria
increased serum creatine kinase
abnormal liver enzymes
low free carnitine
more
Abdomen Liver:
hepatic dysfunction


Clinical features from OMIM:

212138

Human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

55 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cyanosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000961
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 lethargy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001254
5 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
6 hypothermia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002045
7 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
8 hypotension 55 31 hallmark (90%) Very frequent (99-80%) HP:0002615
9 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
10 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
11 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 irritability 55 31 hallmark (90%) Very frequent (99-80%) HP:0000737
13 elevated hepatic transaminases 55 31 hallmark (90%) Very frequent (99-80%) HP:0002910
14 cardiomyopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001638
15 coma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001259
16 hepatic failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001399
17 hyperammonemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001987
18 preeclampsia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100602
19 encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001298
20 elevated creatine kinase after exercise 55 31 hallmark (90%) Very frequent (99-80%) HP:0008331
21 oliguria 55 31 occasional (7.5%) Occasional (29-5%) HP:0100520
22 ventricular tachycardia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004756
23 hypoketotic hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001985
24 fasting hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003162
25 abnormality of skeletal muscles 55 31 hallmark (90%) Very frequent (99-80%) HP:0040290
26 rhabdomyolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003201
27 dicarboxylic aciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003215
28 decreased plasma carnitine 55 31 hallmark (90%) Very frequent (99-80%) HP:0003234
29 elevated plasma acylcarnitine levels 55 31 hallmark (90%) Very frequent (99-80%) HP:0045045
30 sudden episodic apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002882
31 atrioventricular block 31 HP:0001678
32 elevated serum creatine phosphokinase 31 HP:0003236
33 arrhythmia 55 Very frequent (99-80%)
34 hypoglycemia 31 HP:0001943
35 generalized hypotonia 31 HP:0001290
36 ventricular extrasystoles 31 HP:0006682
37 ventricular hypertrophy 31 HP:0001714
38 cardiorespiratory arrest 31 HP:0006543
39 bradycardia 31 HP:0001662

UMLS symptoms related to Carnitine-Acylcarnitine Translocase Deficiency:


seizures, lethargy

MGI Mouse Phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 CPT1A CPT2 SLC25A20

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

Search Clinical Trials , NIH Clinical Center for Carnitine-Acylcarnitine Translocase Deficiency

Genetic Tests for Carnitine-Acylcarnitine Translocase Deficiency

Genetic tests related to Carnitine-Acylcarnitine Translocase Deficiency:

# Genetic test Affiliating Genes
1 Carnitine Acylcarnitine Translocase Deficiency 28 SLC25A20

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

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

38
Liver, Skeletal Muscle, Heart, Testes

Publications for Carnitine-Acylcarnitine Translocase Deficiency

Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show all 33)
# Title Authors Year
1
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. ( 29137068 )
2017
2
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. ( 28689308 )
2017
3
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. ( 25614308 )
2015
4
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. ( 25459972 )
2014
5
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. ( 21301774 )
2011
6
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. ( 20714679 )
2010
7
Prospective treatment in carnitine-acylcarnitine translocase deficiency. ( 17508264 )
2007
8
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. ( 17277394 )
2007
9
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. ( 17578469 )
2007
10
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. ( 15159657 )
2004
11
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. ( 15363639 )
2004
12
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. ( 15365988 )
2004
13
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. ( 12801121 )
2003
14
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. ( 12559850 )
2003
15
[Carnitine acylcarnitine translocase deficiency]. ( 12013981 )
2002
16
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. ( 11350184 )
2001
17
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. ( 11826365 )
2001
18
[Carnitine acylcarnitine translocase deficiency]. ( 11596450 )
2001
19
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. ( 11592821 )
2001
20
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. ( 11271379 )
2001
21
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. ( 10876004 )
2000
22
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. ( 10653336 )
2000
23
Carnitine-acylcarnitine translocase deficiency is a treatable disease. ( 10384385 )
1999
24
Carnitine-acylcarnitine translocase deficiency. ( 10408757 )
1999
25
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. ( 10472533 )
1999
26
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. ( 9544911 )
1998
27
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. ( 9323572 )
1997
28
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. ( 9290607 )
1997
29
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. ( 8739960 )
1996
30
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. ( 7564255 )
1995
31
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. ( 8054358 )
1994
32
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. ( 7807931 )
1994
33
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:

71
# 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 (show all 12)
# 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
11 SLC25A20 NM_000387.5(SLC25A20): c.505dup (p.Tyr169Leufs) duplication Pathogenic GRCh37 Chromosome 3, 48900005: 48900005
12 SLC25A20 NM_000387.5(SLC25A20): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 48884031: 48884031

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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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