CPT2
MCID: CRN183
MIFTS: 50

Carnitine Palmitoyltransferase Ii Deficiency (CPT2) malady

Genetic diseases, Rare diseases categories
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Summaries for Carnitine Palmitoyltransferase Ii Deficiency

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NIH Rare Diseases:42 Carnitine palmitoyltransferase 2 (cpt2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). there are three main types of cpt2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. the neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. the myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). mutations in the cpt2 gene cause cpt2 deficiency. it is inherited in an autosomal recessive pattern. treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.   last updated: 5/29/2012

MalaCards based summary: Carnitine Palmitoyltransferase Ii Deficiency, also known as carnitine palmitoyltransferase ii deficiency, is related to malignant hyperthermia and neuroleptic malignant syndrome. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency is CPT2 (carnitine palmitoyltransferase 2), and among its related pathways are AMPK signaling and Adipocytokine signaling pathway. The compounds L-Palmitoylcarnitine and etomoxir have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and whole blood, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:21 Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.

Wikipedia:65 Carnitine palmitoyltransferase II deficiency (CPT-II) is a metabolic disorder characterized by an... more...

GeneReviews summary for cpt2

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency

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Carnitine Palmitoyltransferase Ii Deficiency, Aliases & Descriptions:

Name: Carnitine Palmitoyltransferase Ii Deficiency 19 21 44
Carnitine Palmitoyltransferase Ii Deficiency 42 20 22
Cpt Ii Deficiency 19 21 62
Carnitine Palmitoyltransferase Deficiency Type 2 42 62
 
Carnitine Palmitoyltransferase 2 Deficiency 42 21
Cpt2 Deficiency 21 62
Carnitine Palmitoyl Transferase 2 Deficiency 62
Cpt2 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency

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Graphical network of the top 20 diseases related to Carnitine Palmitoyltransferase Ii Deficiency:



Diseases related to carnitine palmitoyltransferase ii deficiency

Symptoms for Carnitine Palmitoyltransferase Ii Deficiency

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Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency

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Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency20 22 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency

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MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency:

32
Liver, Skeletal muscle, Whole blood, Brain

Animal Models for Carnitine Palmitoyltransferase Ii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0MB, ACADVL, CPT1B, CPT1A

Publications for Carnitine Palmitoyltransferase Ii Deficiency

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Articles related to Carnitine Palmitoyltransferase Ii Deficiency:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. (24780397)
2014
2
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. (24602495)
2014
3
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. (23911907)
2013
4
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. (23169530)
2013
5
A case report of carnitine palmitoyltransferase II deficiency]. (19222961)
2009
6
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. (19762733)
2009
7
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. (21709843)
2009
8
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. (18471680)
2008
9
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. (18577113)
2008
10
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (18550408)
2008
11
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. (18645163)
2008
12
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. (18987586)
2008
13
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. (16636033)
2006
14
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. (15642848)
2005
15
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. (15653102)
2005
16
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. (15776096)
2005
17
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. (15754283)
2005
18
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (14615409)
2003
19
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. (12707442)
2003
20
Acute renal failure due to carnitine palmitoyltransferase II deficiency. (15025419)
2003
21
Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. (12939440)
2003
22
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. (12370460)
2002
23
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. (11999976)
2002
24
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. (11855939)
2002
25
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. (12362414)
2002
26
Antenatal presentation of carnitine palmitoyltransferase II deficiency. (11477613)
2001
27
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. (11585077)
2001
28
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. (11389301)
2001
29
Muscular carnitine palmitoyltransferase II deficiency in infancy. (10738923)
2000
30
The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. (10896292)
2000
31
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. (10862092)
2000
32
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. (9924637)
1999
33
Genetics of carnitine palmitoyltransferase II deficiencies. (10709661)
1999
34
Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry. (10604150)
1999
35
Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy]. (9691338)
1998
36
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. (9600456)
1998
37
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. (9309694)
1997
38
Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency]. (9366186)
1997
39
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. (8682496)
1996
40
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. (8815169)
1996
41
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset. (7474909)
1995
42
Profound carnitine palmitoyltransferase II deficiency. (8283368)
1994
43
Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. (8201482)
1994
44
Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency. (8048703)
1994
45
Carnitine Palmitoyltransferase II Deficiency (20301431)
1993
46
Pathophysiological approach to carnitine palmitoyltransferase II deficiencies. (1438375)
1992
47
Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation. (1438396)
1992
48
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. (1999498)
1991
49
A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle. (3197828)
1988
50
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. (762593)
1979

Variations for Carnitine Palmitoyltransferase Ii Deficiency

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Expression for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Expression patterns in normal tissues for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

Search GEO for disease gene expression data for Carnitine Palmitoyltransferase Ii Deficiency.

Pathways for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Pathways related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CPT1B, CPT1A
29.3CPT1B, CPT1A
39.3CPT1B, CPT1A
4
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
8.9CPT1A, CPT2, CPT1B
5
Show member pathways
8.9CPT1B, CPT2, CPT1A
68.5ACADVL, CPT1B, CPT1A
7
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
8.1CPT1A, CPT2, CPT1B, ACADVL
8
Show member pathways
8.1CPT1A, CPT2, CPT1B, ACADVL
9
Show member pathways
8.1CPT1A, CPT2, CPT1B, ACADVL
10
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
8.1ACADVL, CPT1B, CPT2, CPT1A

Compounds for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

Compounds related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1L-Palmitoylcarnitine249.3CPT1B, CPT2, CPT1A
2etomoxir449.3CPT2, CPT1A, CPT1B
3malonyl-coa44 2410.3CPT1B, CPT1A, CPT2
4L-Carnitine24 1110.3CPT1B, CPT2, CPT1A
5TG(18:0/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.3CPT1B, CPT2, CPT1A
6TG(18:0/20:1(11Z)/20:1(11Z))[iso3]249.3CPT1A, CPT2, CPT1B
7TG(18:0/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.3CPT1A, CPT2, CPT1B
8TG(18:0/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.3CPT1B, CPT2, CPT1A
9TG(18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))[iso3]249.3CPT1B, CPT2, CPT1A
10TG(18:0/18:0/20:4(5Z,8Z,11Z,14Z))[iso3]249.3CPT1A, CPT1B, CPT2
11TG(18:0/18:0/18:1(9Z))[iso3]249.3CPT2, CPT1A, CPT1B
12TG(18:0/18:0/18:2(9Z,12Z))[iso3]249.3CPT1B, CPT2, CPT1A
13TG(18:0/18:0/20:0)[iso3]249.3CPT1B, CPT2, CPT1A
14TG(18:0/18:0/20:1(11Z))[iso3]249.3CPT1B, CPT2, CPT1A
15TG(18:1(9Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.3CPT1B, CPT2, CPT1A
16TG(20:0/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.3CPT2, CPT1A, CPT1B
17TG(20:0/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.3CPT1B, CPT2, CPT1A
18TG(20:1(11Z)/20:1(11Z)/20:1(11Z))249.3CPT1B, CPT2, CPT1A
19TG(20:1(11Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.2CPT1B, CPT2, CPT1A
20TG(20:1(11Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.2CPT1B, CPT2, CPT1A
21TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:1(11Z))[iso3]249.2CPT1A, CPT1B, CPT2
22TG(18:1(9Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.2CPT1B, CPT2, CPT1A
23TG(18:2(9Z,12Z)/18:2(9Z,12Z)/18:2(9Z,12Z))249.2CPT1B, CPT2, CPT1A
24TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:0)[iso3]249.2CPT1B, CPT2, CPT1A
25TG(12:0/12:0/12:0)249.2CPT1B, CPT2, CPT1A
26TG(16:0/18:0/18:1(9Z))[iso6]249.2CPT2, CPT1A, CPT1B
27TG(16:0/18:0/18:2(9Z,12Z))[iso6]249.2CPT1B, CPT2, CPT1A
28TG(16:0/18:0/20:0)[iso6]249.2CPT1B, CPT2, CPT1A
29TG(16:0/18:0/20:1(11Z))[iso6]249.2CPT1B, CPT2, CPT1A
30TG(16:0/18:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.2CPT1B, CPT2, CPT1A
31TG(16:0/16:0/18:2(9Z,12Z))[iso3]249.2CPT1A, CPT1B, CPT2
32TG(16:0/16:0/16:1(9Z))[iso3]249.1CPT1B, CPT2, CPT1A
33TG(16:0/16:0/18:0)[iso3]249.1CPT1B, CPT2, CPT1A
34TG(16:0/16:0/18:1(9Z))[iso3]249.1CPT1B, CPT2, CPT1A
35TG(16:0/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.1CPT1B, CPT2, CPT1A
36TG(16:1(9Z)/18:1(9Z)/18:1(9Z))[iso3]249.1CPT2, CPT1A, CPT1B
37TG(16:1(9Z)/18:1(9Z)/18:2(9Z,12Z))[iso6]249.1CPT1B, CPT2, CPT1A
38TG(16:1(9Z)/18:1(9Z)/20:0)[iso6]249.0CPT1B, CPT2, CPT1A
39TG(16:1(9Z)/18:1(9Z)/20:1(11Z))[iso6]249.0CPT1B, CPT2, CPT1A
40TG(16:1(9Z)/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]248.9CPT1B, CPT2, CPT1A
41TG(16:1(9Z)/16:1(9Z)/18:0)[iso3]248.9CPT1A, CPT1B, CPT2
42TG(16:0/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]248.9CPT1B, CPT2, CPT1A
43glycerol44 24 1110.8CPT2, CPT1B, MB, CPT1A
44TG(16:0/20:1(11Z)/20:1(11Z))[iso3]248.8CPT1B, CPT2, CPT1A
45TG(16:0/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]248.6CPT1B, CPT2, CPT1A
46acyl-coa448.5CPT2, CPT1A, CPT1B, ACADVL
47Palmityl-CoA248.5ACADVL, CPT1B, CPT2, CPT1A
48palmitate448.5CPT1B, ACADVL, CPT2, CPT1A
49acetyl-coa44 249.5ACADVL, CPT1A, CPT2, CPT1B
50carnitine448.0ACADVL, CPT1A, CPT2, CPT1B, MB

GO Terms for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Cellular components related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.3CPT1B, CPT1A
2mitochondrial inner membraneGO:0057438.4ACADVL, CPT2, CPT1A
3mitochondrionGO:0057398.0ACADVL, CPT1B, CPT2, CPT1A

Biological processes related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epithelial cell differentiationGO:0308559.1ACADVL, CPT1A
2carnitine shuttleGO:0068538.9CPT1B, CPT2, CPT1A
3fatty acid beta-oxidationGO:0066358.1ACADVL, CPT1B, CPT2, CPT1A
4cellular lipid metabolic processGO:0442558.0CPT1A, CPT2, CPT1B, ACADVL
5small molecule metabolic processGO:0442817.8ACADVL, CPT1B, CPT2, CPT1A

Molecular functions related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carnitine O-palmitoyltransferase activityGO:0040958.9CPT1B, CPT2, CPT1A

Products for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Carnitine Palmitoyltransferase Ii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet