CPT2DI
MCID: CRN296
MIFTS: 62

Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Infantile 57 29 6 40 72
Carnitine Palmitoyltransferase Ii Deficiency 12 75 24 25 59 37 29 55 6 15
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 57 74
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 57 74
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 40 72
Carnitine Palmitoyltransferase Deficiency Type 2 53 59
Carnitine Palmitoyl Transferase 2 Deficiency 44 72
Carnitine Palmitoyltransferase 2 Deficiency 53 25
Cpt Ii Deficiency, Hepatic 57 74
Cpt2 Deficiency, Infantile 57 74
Cpt Ii Deficiency 24 25
Cpt2 53 59
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 59
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 59
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 72
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 12
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 12
Infantile Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase 2 Deficiency, Infantile 74
Carnitine Palmitoyltransferase Ii Deficiency 53
Cptii, Hepatocardiomuscular Form 59
Cpt Deficiency, Hepatic, Type Ii 13
Cpt2, Hepatocardiomuscular Form 59
Cpt Ii Deficiency, Infantile 57
Cptii, Severe Infantile Form 59
Cpt2, Severe Infantile Form 59
Cpt2 Deficiency 25
Cpt-Ii 12
Cpt2di 74
Cptii 59

Characteristics:

Orphanet epidemiological data:

59
carnitine palmitoyltransferase ii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: All ages;
carnitine palmitoyl transferase ii deficiency, severe infantile form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (3 months on)
precipitated by febrile illness and fasting
see also lethal neonatal () and adult forms ()


HPO:

32
carnitine palmitoyltransferase ii deficiency, infantile:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060235
OMIM 57 600649
KEGG 37 H01982
NCIt 50 C114766
MESH via Orphanet 45 C535589
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0342790 C1833511
MedGen 42 C1833511
UMLS 72 C0342790 C1833508 C1833511 more

Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Genetics Home Reference : 25 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. The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals also 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. In many cases, the brain and kidneys are also structurally abnormal. Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months. The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of CPT II deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes.

MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to multiple acyl-coa dehydrogenase deficiency and myoglobinuria, and has symptoms including seizures, vomiting and respiratory distress. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Infantile is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Bezafibrate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are seizures and muscle weakness

Disease Ontology : 12 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

NIH Rare Diseases : 53 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.

OMIM : 57 Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006). See also the lethal neonatal (608836) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene. (600649)

KEGG : 37
Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form.

UniProtKB/Swiss-Prot : 74 Carnitine palmitoyltransferase 2 deficiency, infantile: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.

Wikipedia : 75 Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic... more...

GeneReviews: NBK1253

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency 31.6 ETFDH CPT2 ACADVL
2 myoglobinuria 31.4 CPT2 ACADVL
3 carnitine deficiency, systemic primary 31.1 SLC25A20 ETFDH CPT2 ACADVL
4 myoglobinuria, recurrent 31.0 CPT2 ACADVL
5 acyl-coa dehydrogenase, very long-chain, deficiency of 30.3 SLC25A20 HADHA CPT2 ACADVL ACADL
6 carnitine-acylcarnitine translocase deficiency 30.2 SLC25A20 CPT2 CPT1A
7 hypoglycemia 29.7 SLC25A20 CPT2 CPT1A ACADVL ACADL
8 atrial standstill 1 29.6 SLC25A20 HADHA ACADVL
9 carnitine palmitoyltransferase i deficiency 29.5 SLC25A20 HADHA CRAT CPT2 CPT1B CPT1A
10 carnitine palmitoyltransferase ii deficiency, lethal neonatal 13.1
11 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 13.1
12 glycogen storage disease v 11.3
13 dilated cardiomyopathy 11.3
14 chronic pain 11.3
15 dysautonomia 11.3
16 cardiac arrhythmia 11.2
17 diabetes mellitus, noninsulin-dependent 11.2
18 abetalipoproteinemia 11.2
19 acyl-coa dehydrogenase, short-chain, deficiency of 11.2
20 glycogen storage disease iv 11.2
21 pancytopenia 11.2
22 arthritis 11.2
23 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.7
24 autosomal recessive disease 10.6
25 acute kidney failure 10.5
26 myopathy 10.4
27 hydrocephalus 10.3
28 congenital hydrocephalus 10.3
29 renal dysplasia 10.3
30 traumatic brain injury 10.3
31 visceral steatosis 10.2 CPT1B CPT1A
32 brain injury 10.2
33 dandy-walker syndrome 10.1
34 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
35 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
36 west syndrome 10.1
37 metabolic acidosis 10.1
38 interstitial nephritis 10.1
39 hypospadias 10.1
40 respiratory failure 10.1
41 oligohydramnios 10.1
42 acute kidney tubular necrosis 10.1
43 locked-in syndrome 10.1
44 quadriplegia 10.1
45 hemangioma 10.1
46 pancreatitis 10.1
47 kidney disease 10.1
48 malignant hyperthermia 10.1
49 polymicrogyria 10.1
50 dandy-walker complex 10.1

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



Diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001250
2 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002240
4 myopathy 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003198
5 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
6 elevated hepatic transaminase 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
7 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001638
8 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
9 abnormal circulating long-chain fatty-acid concentration 32 hallmark (90%) HP:0010964
10 abnormal circulating acetylcarnitine concentration 32 hallmark (90%) HP:0012071
11 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
12 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
13 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
14 arrhythmia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011675
15 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
16 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
17 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
18 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
19 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
20 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
21 reduced consciousness/confusion 59 Occasional (29-5%)
22 vomiting 32 HP:0002013
23 cardiomegaly 32 HP:0001640
24 death in infancy 59 Occasional (29-5%)
25 abnormality of nervous system morphology 59 Frequent (79-30%)
26 dilated cardiomyopathy 32 HP:0001644
27 abnormality of the kidney 59 Very frequent (99-80%)
28 hyperammonemia 32 HP:0001987
29 lethargy 32 HP:0001254
30 abnormality of long-chain fatty-acid metabolism 59 Very frequent (99-80%)
31 abnormality of acetylcarnitine metabolism 59 Very frequent (99-80%)
32 macrovesicular hepatic steatosis 32 HP:0001403
33 respiratory arrest 32 HP:0005943
34 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
lethargy

Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
hyperammonemia
increased creatine kinase
decreased carnitine palmitoyltransferase ii (cpt2) activity
decreased levels of cpt2 protein
decreased palmitate oxidation
more
Respiratory:
respiratory arrest

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy

Metabolic Features:
hypoketotic hypoglycemia

Clinical features from OMIM:

600649

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:


seizures, vomiting, respiratory distress, myalgia, apnea, lethargy, muscle cramp, muscular stiffness

MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 ACADL ACADVL CPT1A CPT2 CRAT ETFDH
2 homeostasis/metabolism MP:0005376 9.56 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
3 mortality/aging MP:0010768 9.28 ACADL ACADVL CPT1A CPT1B CPT2 CS

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Drugs for Carnitine Palmitoyltransferase Ii Deficiency, Infantile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2
Glycerol Approved, Investigational Phase 2 56-81-5 753
3
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
4
Sorbitol Approved Phase 2 50-70-4 5780
5 Strawberry Approved Phase 2
6
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
9
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
10 Lipid Regulating Agents Phase 2
11 Hypolipidemic Agents Phase 2
12 Antimetabolites Phase 2
13 carnitine Phase 2
14 Antioxidants Phase 2
15 Protective Agents Phase 2
16 Gastrointestinal Agents Phase 2
17 Micronutrients Phase 2
18 Trace Elements Phase 2
19 Cathartics Phase 2
20 Respiratory System Agents Phase 2
21 Free Radical Scavengers Phase 2
22 Anti-Infective Agents Phase 2
23 N-monoacetylcystine Phase 2
24 Vitamins Phase 2
25 Vitamin B9 Phase 2
26 Folate Phase 2
27 Vitamin B3 Phase 2
28 Vitamin B Complex Phase 2
29 Nicotinic Acids Phase 2
30 Laxatives Phase 2
31 Expectorants Phase 2
32 Nutrients Phase 2
33 Tetrahydrofolates Phase 2
34 Antiviral Agents Phase 2
35
Resveratrol Approved, Experimental, Investigational 501-36-0 445154
36
Dopamine Approved 51-61-6, 62-31-7 681
37
Methylphenidate Approved, Investigational 113-45-1 4158
38 Analgesics, Non-Narcotic
39 Antineoplastic Agents, Phytogenic
40 Peripheral Nervous System Agents
41 Analgesics
42 Anti-Inflammatory Agents, Non-Steroidal
43 Anti-Inflammatory Agents
44 Platelet Aggregation Inhibitors
45 Antirheumatic Agents
46 Neurotransmitter Agents
47 Dopamine Agents
48 Central Nervous System Stimulants
49 Neurotransmitter Uptake Inhibitors
50 Dopamine Uptake Inhibitors

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
2 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
3 An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
4 Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders Completed NCT01379625 Phase 2 Triheptanoin
5 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
6 An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies Enrolling by invitation NCT02214160 Phase 2 UX007
7 A Phase 2, Randomized, Placebo Controlled Study to Evaluate the Efficacy, Tolerability and Safety of Metabolic Cofactor Supplementation in Alzheimer's Disease (AD) And Parkinson's Disease (PD) Patients Not yet recruiting NCT04044131 Phase 2 Metabolic Cofactor Supplementation;Sorbitol
8 Randomized Controlled Trial With Use of Cognitive Training in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder Unknown status NCT02184598
9 Rhabdomyolysis in Basic Training Completed NCT00601029
10 Evaluation on the Effect on Cognition and Emotional Exhaustion With a Change of Long Night Shift System Versus Reduced Night Shift in Residents of Internal Medicine Completed NCT04053556
11 Dietary Therapy of Mitochondrial Fatty Acids Oxidation. A Clinical Study of Treatment With Odd Carbons Medium-chain Fatty Acids Completed NCT00328159 Oil special 107 and MYGLIOL 810
12 Role of Circadian and Homeostatic Systems in the Regulation of Wakefulness in Adult Patients With Attention Deficit Disorder With or Without Hyperactivity Completed NCT02217371
13 Effectiveness of Meta-Cognitive Training (EMC) on Symptmos, Metacognition, Social and Neuropsychological Functioning in People With Psychosis of Brief Evolution Completed NCT02340559
14 Efficacy of an Attentional Process Training Using Competitive Versus Non Competitive Strategies Completed NCT02220816
15 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Recruiting NCT03728777
16 To Explore the Influence of Appetite Reduction and Medication Effect of Methylphenidate in Patients With Attention-deficit/Hyperactivity Disorder Through Pharmacogenetics. Recruiting NCT04006548
17 Longitudinal Associations Between Changes in Sleep Duration and Blood Pressure Across School Holiday in Sleep-deprived Teenagers Recruiting NCT03895710
18 Dietary Therapy for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
19 Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease Not yet recruiting NCT03678324
20 Prevalence of Obstructive Sleep Apnoea Among Adolescents in the General Population Not yet recruiting NCT03895775

Search NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Cochrane evidence based reviews: carnitine palmitoyl transferase 2 deficiency

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency 29 CPT2
2 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 29 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

41
Liver, Heart, Kidney, Brain, Skeletal Muscle, Testes, Whole Blood

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

(show top 50) (show all 148)
# Title Authors PMID Year
1
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 9 38 4 8 71
18550408 2008
2
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. 9 38 4 8 71
12410208 2002
3
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. 9 38 8 71
8682496 1996
4
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. 9 38 8 71
8651281 1996
5
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. 9 38 8 71
1528846 1992
6
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. 9 38 8 71
1999498 1991
7
Antenatal presentation of carnitine palmitoyltransferase II deficiency. 9 38 4 71
11477613 2001
8
Novel mutations associated with carnitine palmitoyltransferase II deficiency. 9 38 4 71
10090476 1999
9
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. 4 71
15622536 2005
10
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. 4 71
10873395 2000
11
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. 9 38 71
7711730 1995
12
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 9 38 4
18645163 2008
13
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 9 38 4
18430572 2008
14
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 9 38 4
16996287 2006
15
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. 9 38 4
15754283 2005
16
Carnitine Palmitoyltransferase II Deficiency 38 71
20301431 2004
17
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. 9 38 4
14615409 2003
18
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. 9 38 4
12707442 2003
19
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. 9 38 4
12362414 2002
20
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. 9 38 4
11999976 2002
21
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. 9 38 4
9924637 1999
22
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 9 38 4
9600456 1998
23
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
24
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. 71
23184072 2012
25
[Myopathy in the course of carnitine palmitoyltransferase II deficiency]. 38 4
23319229 2012
26
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. 38 4
21641254 2011
27
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. 8
18925671 2008
28
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. 38 4
18577113 2008
29
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. 71
17709715 2007
30
Disorders of carnitine transport and the carnitine cycle. 8
16602102 2006
31
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. 38 4
15642848 2005
32
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. 38 4
12638078 2003
33
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. 38 4
11389301 2001
34
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. 71
10398215 1999
35
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. 71
8786066 1996
36
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. 71
8358442 1993
37
Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts. 71
736528 1978
38
Diagnostic pitfall in antenatal manifestations of CPT II deficiency. 4
25827434 2016
39
Malony-CoA inhibits the S113L variant of carnitine-palmitoyltransferase II. 4
26477380 2016
40
Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned? 4
25310995 2015
41
Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy. 4
23969168 2014
42
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. 4
24398345 2014
43
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. 4
24453079 2014
44
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 4
24088670 2013
45
Differences between acylcarnitine profiles in plasma and bloodspots. 4
23639448 2013
46
Expanding mutation spectrum in CPT II gene: identification of four novel mutations. 4
23475205 2013
47
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 4
21913903 2012
48
Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. 4
20934285 2011
49
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. 4
20810031 2011
50
Post-mortem MRI reveals CPT2 deficiency after sudden infant death. 4
20661589 2010

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CPT2 NM_000098.3(CPT2): c.98del (p.Gln33fs) deletion Pathogenic rs917744011 1:53662713-53662713 1:53197041-53197041
2 CPT2 NM_000098.3(CPT2): c.723_724AC[1] (p.His242fs) short repeat Pathogenic rs1238901632 1:53676071-53676072 1:53210399-53210400
3 CPT2 NM_000098.3(CPT2): c.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 1:53679181-53679181 1:53213509-53213509
4 CPT2 NM_000098.3(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 1:53662764-53662764 1:53197092-53197092
5 CPT2 NM_000098.3(CPT2): c.1239_1240del (p.Lys414fs) deletion Pathogenic rs397509431 1:53676585-53676586 1:53210913-53210914
6 CPT2 NM_000098.3(CPT2): c.641T> C (p.Met214Thr) single nucleotide variant Pathogenic rs515726174 1:53675987-53675987 1:53210315-53210315
7 CPT2 NM_000098.3(CPT2): c.983A> G (p.Asp328Gly) single nucleotide variant Pathogenic rs515726175 1:53676329-53676329 1:53210657-53210657
8 CPT2 NM_000098.3(CPT2): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs515726176 1:53676491-53676491 1:53210819-53210819
9 CPT2 NM_000098.3(CPT2): c.1737del (p.Ala578_Tyr579insTer) deletion Pathogenic rs515726178 1:53679027-53679027 1:53213355-53213355
10 CPT2 NM_000098.3(CPT2): c.1925_1937del (p.Lys642fs) deletion Pathogenic rs515726179 1:53679213-53679225 1:53213541-53213553
11 CPT2 NM_000098.3(CPT2): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs368311455 1:53676857-53676857 1:53211185-53211185
12 CPT2 NM_000098.3(CPT2): c.1784del (p.Pro595fs) deletion Pathogenic 1:53679074-53679074 1:53213402-53213402
13 CPT2 NM_000098.3(CPT2): c.1666_1667del (p.Leu556fs) deletion Pathogenic 1:53678956-53678957 1:53213284-53213285
14 CPT2 NM_000098.3(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 1:53675716-53675716 1:53210044-53210044
15 CPT2 NM_000098.3(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 1:53676232-53676232 1:53210560-53210560
16 CPT2 NM_000098.3(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756931329 1:53676715-53676715 1:53211043-53211043
17 CPT2 NM_000098.3(CPT2): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic/Likely pathogenic rs515726177 1:53675798-53675798 1:53210126-53210126
18 CPT2 NM_000098.3(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 1:53676494-53676494 1:53210822-53210822
19 CPT2 NM_000098.3(CPT2): c.680C> T (p.Pro227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs74315298 1:53676026-53676026 1:53210354-53210354
20 CPT2 NM_000098.3(CPT2): c.1345delinsTA (p.Gln449Ter) indel Pathogenic/Likely pathogenic rs1057517525 1:53676691-53676691 1:53211019-53211019
21 CPT2 NM_000098.3(CPT2): c.1359_1362del (p.Lys453fs) deletion Likely pathogenic rs1057517507 1:53676705-53676708 1:53211033-53211036
22 CPT2 NM_000098.3(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 1:53676760-53676760 1:53211088-53211088
23 CPT2 NM_000098.3(CPT2): c.1545_1548del (p.Phe516fs) deletion Likely pathogenic rs1057517477 1:53676891-53676894 1:53211219-53211222
24 CPT2 NM_000098.3(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 1:53676960-53676960 1:53211288-53211288
25 CPT2 NM_000098.3(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 1:53676993-53676993 1:53211321-53211321
26 CPT2 NM_000098.3(CPT2): c.1774_1775del (p.Leu592fs) deletion Likely pathogenic rs767004984 1:53679064-53679065 1:53213392-53213393
27 CPT2 NM_000098.3(CPT2): c.54_72dup (p.Leu25fs) duplication Likely pathogenic rs1057517510 1:53662669-53662687 1:53196997-53197015
28 CPT2 NM_000098.3(CPT2): c.75del (p.Ser26fs) deletion Likely pathogenic rs1057517493 1:53662690-53662690 1:53197018-53197018
29 CPT2 NM_000098.3(CPT2): c.95del (p.Gly32fs) deletion Likely pathogenic rs1057517494 1:53662710-53662710 1:53197038-53197038
30 CPT2 NM_000098.3(CPT2): c.108_109GC[3] (p.Ser38fs) short repeat Likely pathogenic rs754363068 1:53662725-53662726 1:53197053-53197054
31 CPT2 NM_000098.3(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 1:53675952-53675952 1:53210280-53210280
32 CPT2 NM_000098.3(CPT2): c.1046dup (p.Asn349fs) duplication Likely pathogenic rs1057517515 1:53676392-53676392 1:53210720-53210720
33 CPT2 NM_000098.3(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 1:53676399-53676399 1:53210727-53210727
34 CPT2 NM_000098.3(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 1:53676691-53676691 1:53211019-53211019
35 CPT2 NM_000098.3(CPT2): c.879_880del (p.Ser293fs) deletion Likely pathogenic rs1195259425 1:53676223-53676225 1:53210553-53210554
36 CPT2 NM_000098.3(CPT2): c.989dup (p.Ile332fs) duplication Likely pathogenic rs1553169716 1:53676333-53676333 1:53210663-53210663
37 CPT2 NM_000098.3(CPT2): c.1432C> T (p.Gln478Ter) single nucleotide variant Likely pathogenic rs1469108369 1:53676778-53676778 1:53211106-53211106
38 CPT2 NM_000098.3(CPT2): c.1446_1447del (p.Val483fs) deletion Likely pathogenic rs1553169787 1:53676791-53676793 1:53211120-53211121
39 CPT2 NM_000098.3(CPT2): c.1563del (p.Arg522fs) deletion Likely pathogenic rs1229197873 1:53676907-53676908 1:53211237-53211237
40 CPT2 NM_000098.3(CPT2): c.1933dup (p.Glu645fs) duplication Likely pathogenic rs1553170033 1:53679222-53679222 1:53213551-53213551
41 CPT2 NM_000098.3(CPT2): c.401_404del (p.Phe134fs) deletion Likely pathogenic rs1553169598 1:53675744-53675748 1:53210075-53210078
42 CPT2 NM_000098.3(CPT2): c.670del (p.Thr224fs) deletion Likely pathogenic rs762366252 1:53676014-53676015 1:53210344-53210344
43 CPT2 NM_000098.3(CPT2): c.606T> G (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 1:53675952-53675952 1:53210280-53210280
44 CPT2 NM_000098.3(CPT2): c.627_630dup (p.Pro211fs) duplication Likely pathogenic rs1553169629 1:53675972-53675972 1:53210301-53210304
45 CPT2 NM_000098.3(CPT2): c.1375C> T (p.Gln459Ter) single nucleotide variant Likely pathogenic rs1553169771 1:53676721-53676721 1:53211049-53211049
46 CPT2 NM_000098.3(CPT2): c.1767del (p.Ser590fs) deletion Likely pathogenic rs1553169973 1:53679056-53679057 1:53213385-53213385
47 CPT2 NM_000098.3(CPT2): c.1929del (p.Ala643_Leu644insTer) deletion Likely pathogenic rs1553170029 1:53679217-53679218 1:53213547-53213547
48 CPT2 NM_000098.3(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 1:53675705-53675705 1:53210033-53210033
49 CPT2 NM_000098.3(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Likely pathogenic rs74315296 1:53676853-53676853 1:53211181-53211181
50 CPT2 NM_000098.3(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Likely pathogenic rs28936673 1:53679173-53679173 1:53213501-53213501

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

74
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Tyr628Ser VAR_001398 rs28936673
2 CPT2 p.Arg631Cys VAR_001399 rs74315293

Expression for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

Pathways for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 SLC25A20 HADHA ETFDH CS CRAT CPT2
2
Show member pathways
13.19 SLC25A20 ETFDH CS CPT2 CPT1B CPT1A
3
Show member pathways
12.47 SLC25A20 HADHA CPT2 CPT1B CPT1A ACADVL
4
Show member pathways
11.9 CRAT CPT2 CPT1B CPT1A
5 11.44 CPT2 CPT1B CPT1A ACADL
6
Show member pathways
11.43 HADHA ACADVL ACADL
7 11.36 CPT1B CPT1A
8
Show member pathways
11.33 CPT1B CPT1A
9 11.22 CPT1B CPT1A ACADVL
10 11.21 CPT1B CPT1A
11
Show member pathways
10.95 SLC25A20 HADHA CRAT CPT2 CPT1B CPT1A
12 10.89 CPT2 CPT1A
13 10.3 SLC25A20 CPT2 CPT1B CPT1A

GO Terms for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Cellular components related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ETFDH CS ACADVL ACADL
2 mitochondrial membrane GO:0031966 9.43 ETFDH ACADVL ACADL
3 mitochondrial inner membrane GO:0005743 9.43 SLC25A20 HADHA ETFDH CRAT CPT2 ACADVL
4 mitochondrial nucleoid GO:0042645 9.32 HADHA ACADVL
5 mitochondrion GO:0005739 9.32 SLC25A20 HADHA ETFDH CS CRAT CPT2

Biological processes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 HADHA ETFDH ACADVL ACADL
2 lipid metabolic process GO:0006629 9.8 HADHA CRAT CPT2 CPT1B CPT1A ACADVL
3 epithelial cell differentiation GO:0030855 9.52 CPT1A ACADVL
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.5 ETFDH ACADVL ACADL
5 fatty acid metabolic process GO:0006631 9.5 HADHA CRAT CPT2 CPT1B CPT1A ACADVL
6 temperature homeostasis GO:0001659 9.49 ACADVL ACADL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.48 ACADVL ACADL
8 regulation of cholesterol metabolic process GO:0090181 9.46 ACADVL ACADL
9 carnitine shuttle GO:0006853 9.46 SLC25A20 CPT2 CPT1B CPT1A
10 carnitine metabolic process GO:0009437 9.43 CPT1B CPT1A
11 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADVL ACADL
12 carnitine metabolic process, CoA-linked GO:0019254 9.37 CRAT ACADL
13 fatty acid beta-oxidation GO:0006635 9.1 HADHA CPT2 CPT1B CPT1A ACADVL ACADL

Molecular functions related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 CS CRAT CPT2 CPT1B CPT1A
2 oxidoreductase activity GO:0016491 9.73 HADHA ETFDH ACADVL ACADL
3 flavin adenine dinucleotide binding GO:0050660 9.5 ETFDH ACADVL ACADL
4 transferase activity, transferring acyl groups GO:0016746 9.46 CRAT CPT2 CPT1B CPT1A
5 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 ACADVL ACADL
6 acyl-CoA dehydrogenase activity GO:0003995 9.37 ACADVL ACADL
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.26 ACADVL ACADL
8 fatty-acyl-CoA binding GO:0000062 9.13 HADHA ACADVL ACADL
9 carnitine O-palmitoyltransferase activity GO:0004095 8.8 CPT2 CPT1B CPT1A

Sources for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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