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CPT2DI
MCID: CRN296
MIFTS: 60
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Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)
Categories:
Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:
Characteristics:Orphanet epidemiological data:60
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:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy (3 months on) precipitated by febrile illness and fasting see also lethal neonatal and adult forms HPO:33
carnitine palmitoyltransferase ii deficiency, infantile:
Clinical modifier death in infancy Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Cardiovascular diseases Liver diseases
ICD10:
35
External Ids:
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NIH Rare Diseases
:
54
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.
MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to carnitine-acylcarnitine translocase deficiency and multiple acyl-coa dehydrogenase deficiency, 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 Antimetabolites 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. Genetics Home Reference : 26 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. OMIM : 58 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) UniProtKB/Swiss-Prot : 76 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 : 77 Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic... more...
GeneReviews:
NBK1253
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Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:60 33 (show all 34)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:600649UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:seizures, vomiting, respiratory distress, apnea, myalgia, lethargy, muscle cramp, muscular stiffness MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:47
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Drugs for Carnitine Palmitoyltransferase Ii Deficiency, Infantile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 31)
Interventional clinical trials:
Cochrane evidence based reviews: carnitine palmitoyl transferase 2 deficiency |
MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:42
Liver,
Heart,
Kidney,
Skeletal Muscle,
Testes,
Brain,
Whole Blood
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Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:(show top 50) (show all 76)
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Genes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:76
ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:6 (show top 50) (show all 350)
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Search
GEO
for disease gene expression data for Carnitine Palmitoyltransferase Ii Deficiency, Infantile.
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Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to KEGG:38
Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:(show all 14)
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Cellular components related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:
Biological processes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to GeneCards Suite gene sharing:
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