MCID: CRN041
MIFTS: 41

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

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

HPO:

61
carnitine-acylcarnitine translocase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 212138
Orphanet51 159
UMLS via Orphanet66 C0342791
ICD10 via Orphanet28 E71.3
MedGen34 C0342791
MeSH36 D008052
UMLS65 C0342791

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

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 2146

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

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, Bone, Bone marrow

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
Serological Diagnosis and Follow-Up of Human Cystic Echinococcosis: A New Hope for the Future? (26504805)
2015
2
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients. (26395888)
2015
3
Pseudogene PTENP1 functions as a competing endogenous RNA to suppress clear cell renal cell carcinoma progression. (25249556)
2014
4
CCR2, CX3CR1, RANTES and SDF1 genetic polymorphisms influence HIV infection in a Zimbabwean pediatric population. (25313609)
2014
5
Effect of denosumab on the growing skeleton in osteogenesis imperfecta. (25148238)
2014
6
Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. (23493319)
2013
7
Treatment of mucous membrane pemphigoid with the combination of mycophenolate mofetil, dapsone, and prednisolone: a case series. (22727107)
2012
8
New therapeutic approaches for malignant glioma: in search of the Rosetta stone. (22991580)
2012
9
Tungiasis in a beach volleyball player: a case report. (21817006)
2011
10
Effect of upper limb deformities on gross motor and upper limb functions in children with spastic cerebral palsy. (21821392)
2011
11
Comorbid psychiatric disorders associated with Asperger syndrome/high-functioning autism: a community- and clinic-based study. (20177765)
2010
12
Redefining the role of lymphocytes in gastroesophageal reflux disease and eosinophilic esophagitis. (20353445)
2010
13
Genetic variation in OAS1 is a risk factor for initial infection with West Nile virus in man. (19247438)
2009
14
Glycoprotein IIB/IIIA inhibitor to reduce postpercutaneous coronary intervention myonecrosis and improve coronary flow in diabetics: the 'OPTIMIZE-IT' pilot randomized study. (19262211)
2009
15
The prognostic values of soft tissue sonography for adult cellulitis without pus or abscess formation. (20233245)
2009
16
Iodine contrast media doses equal-attenuating with gadolinium chelates at CT-aortography may have less risk of contrast-induced nephropathy and no risk of nephrogenic systemic fibrosis in azotaemic patients! (18389241)
2008
17
Chronic recurrent multifocal osteomyelitis associated to psoriasis. (17696102)
2007
18
Multidrug-resistant tuberculosis in bone marrow transplant recipient. (15984950)
2005
19
Interactive effects of HDAC inhibitors and TRAIL on apoptosis are associated with changes in mitochondrial functions and expressions of cell cycle regulatory genes in multiple myeloma. (16026644)
2005
20
Does postoperative pH monitoring predict complicated gastroesophageal reflux in patients with esophageal atresia? (15372290)
2004
21
Enhancement of the p27Kip1-mediated antiproliferative effect of trastuzumab (Herceptin) on HER2-overexpressing tumor cells. (15382077)
2004
22
A combined neuropsychological and neuroimaging study of topographical and non-verbal memory in semantic dementia. (12753955)
2003
23
Nicotine-modulated formation of spiroiminodihydantoin nucleoside via 8-oxo-7,8-dihydro-2'-deoxyguanosine in 2'-deoxyguanosine-hypochlorous acid reaction. (11959105)
2002
24
A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency. (11750290)
2002
25
Mallory bodies, like the mutant of ATP7B seen in Wilson disease, are aggresomes. (11706834)
2001
26
Two-dimensional electrophoresis and characterization of antigens from Paracoccidioides brasiliensis. (11418327)
2001
27
Dithranol upregulates IL-10 receptors on the cultured human keratinocyte cell line HaCaT. (11235021)
2001
28
The life cycle of coagulation factor VIII in view of its structure and function. (9834200)
1998
29
Variant of the Triple A syndrome. (7945119)
1994
30
Cocaine abuse in pregnancy. (2746826)
1989
31
Osteolytic phaeohyphomycosis in a German shepherd dog caused by Phialemonium obovatum. (3711290)
1986

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

idNameGO IDScoreTop Affiliating Genes
1carnitine shuttleGO:00068539.1CPT1A, 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