Carnitine Deficiency, Systemic Primary malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Nephrological diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Carnitine Deficiency, Systemic Primary:
Orphanet epidemiological data:52
systemic primary carnitine deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Japan),1-9/1000000 (Australia),6-9/10000 (Faroe Islands),>1/1000 (Faroe Islands); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
carnitine deficiency, systemic primary:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Nephrological diseases
ICD10: 29 28
OMIM:50 Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in... (212140) more...
MalaCards based summary: Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to atrophic glossitis and dilated cardiomyopathy, and has symptoms including hepatomegaly, hepatomegaly and muscle weakness. An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Mitochondrial Fatty Acid Beta-Oxidation. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.
Disease Ontology:11 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
NIH Rare Diseases:46 Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). the nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. some individuals may only have fatigability in adulthood, or no symptoms at all. this condition is caused by mutations in the slc22a5 gene and is inherited in an autosomal recessive manner. treatment and prevention of symptoms typically includes oral l-carnitine supplementation. last updated: 7/9/2012
UniProtKB/Swiss-Prot:68 Systemic primary carnitine deficiency: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.
Genetics Home Reference:24 Primary carnitine deficiency is a condition that prevents the body from using certain fats for 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.
Wikipedia:69 Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine... more...
GeneReviews summary for NBK84551
HPO human phenotypes related to Carnitine Deficiency, Systemic Primary:(show all 23)
UMLS symptoms related to Carnitine Deficiency, Systemic Primary:hepatomegaly, muscle weakness
Drugs for Carnitine Deficiency, Systemic Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 28)
Interventional clinical trials:(show all 26)
Search NIH Clinical Center for Carnitine Deficiency, Systemic Primary
MalaCards organs/tissues related to Carnitine Deficiency, Systemic Primary:34
Liver, Heart, Kidney, Skeletal muscle, Brain
UniProtKB/Swiss-Prot genetic disease variations for Carnitine Deficiency, Systemic Primary:68 (show all 49)
Clinvar genetic disease variations for Carnitine Deficiency, Systemic Primary:5 (show all 45)
Search GEO for disease gene expression data for Carnitine Deficiency, Systemic Primary.
Pathways related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:
Cellular components related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:
Biological processes related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:(show all 7)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet