MCID: CRN041
MIFTS: 42

Carnitine-Acylcarnitine Translocase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

About this section

Aliases & Descriptions for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 51 47 24 25 53 69 12 67
Cact Deficiency 24 25 53 69
Carnitine Acylcarnitine Translocase Deficiency 25 26
 
Carnitine-Acylcarnitine Carrier Deficiency 25
Cactd 69

Characteristics:

Orphanet epidemiological data:

53
carnitine-acylcarnitine translocase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

63
carnitine-acylcarnitine translocase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 212138
Orphanet53 ORPHA159
UMLS via Orphanet68 C0342791
ICD10 via Orphanet30 E71.3
MedGen36 C0342791
MeSH38 D008052

Summaries for Carnitine-Acylcarnitine Translocase Deficiency

About this section
OMIM:51 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 cardiac arrest and eclampsia, and has symptoms including irritability, seizures and muscular hypotonia. 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 AMPK Enzyme Complex 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).

NIH Rare Diseases:47 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:69 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:70 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Related Diseases for Carnitine-Acylcarnitine Translocase Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiac arrest10.1
2eclampsia10.1
3hypoglycemia10.1
4cardiomyopathy10.1
5mitochondrial complex iii deficiency, nuclear type 49.5CPT2, SLC25A20
6fga-related congenital afibrinogenemia8.9CPT1A, CPT2, SLC25A20

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



Diseases related to carnitine-acylcarnitine translocase deficiency

Symptoms for Carnitine-Acylcarnitine Translocase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

212138

Clinical features from OMIM:

212138

Human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

 63 (show all 21)
id Description HPO Frequency HPO Source Accession
1 irritability63 HP:0000737
2 seizures63 HP:0001250
3 muscular hypotonia63 HP:0001252
4 lethargy63 HP:0001254
5 coma63 HP:0001259
6 muscle weakness63 HP:0001324
7 cardiomyopathy63 HP:0001638
8 bradycardia63 HP:0001662
9 atrioventricular block63 HP:0001678
10 ventricular hypertrophy63 HP:0001714
11 hypoglycemia63 HP:0001943
12 hyperammonemia63 HP:0001987
13 hepatomegaly63 HP:0002240
14 hypotension63 HP:0002615
15 elevated hepatic transaminases63 HP:0002910
16 rhabdomyolysis63 HP:0003201
17 dicarboxylic aciduria63 HP:0003215
18 elevated serum creatine phosphokinase63 HP:0003236
19 ventricular tachycardia63 HP:0004756
20 cardiorespiratory arrest63 HP:0006543
21 ventricular extrasystoles63 HP:0006682

UMLS symptoms related to Carnitine-Acylcarnitine Translocase Deficiency:


lethargy, seizures

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1carnitineNutraceuticalPhase 2158

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

About this section

Genetic tests related to Carnitine-Acylcarnitine Translocase Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Acylcarnitine Translocase Deficiency26
2 Carnitine-Acylcarnitine Translocase Deficiency24 SLC25A20

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

About this section

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

35
Liver, Skeletal muscle, Heart, Testes

Animal Models for Carnitine-Acylcarnitine Translocase Deficiency or affiliated genes

About this section

Publications for Carnitine-Acylcarnitine Translocase Deficiency

About this section

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
Prospective treatment in carnitine-acylcarnitine translocase deficiency. (17508264)
2007
7
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. (17277394)
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
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. (11592821)
2001
17
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. (11271379)
2001
18
Carnitine acylcarnitine translocase deficiency]. (11596450)
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

About this section

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

69
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 DELdeletionPathogenicChr na, -1: -1
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+1delGdeletionLikely pathogenicrs757552268GRCh37Chr 3, 48921429: 48921429

Expression for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

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

Pathways for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

About this section

GO Terms for genes affiliated with Carnitine-Acylcarnitine Translocase Deficiency

About this section

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:00066359.1CPT1A, CPT2
2carnitine shuttleGO:00068538.4CPT1A, 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

Sources for Carnitine-Acylcarnitine Translocase Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet