Carnitine Deficiency, Systemic Primary malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Nephrological diseases categories
Aliases & Descriptions for Carnitine Deficiency, Systemic Primary:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Nephrological diseases
Characteristics (Orphanet epidemiological data):48
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
OMIM:46 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 renal carnitine transport defect, is related to primary ciliary dyskinesia and reye syndrome, and has symptoms including autosomal recessive inheritance, muscular hypotonia and lethargy. An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5). Affiliated tissues include heart, brain and skeletal muscle, and related mouse phenotype liver/biliary system.
Disease Ontology:8 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.
Genetics Home Reference:21 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.
NIH Rare Diseases:42 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
Wikipedia:64 Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine... more...
GeneReviews summary for cdsp
Diseases related to Carnitine Deficiency, Systemic Primary via text searches within MalaCards or GeneCards Suite gene sharing:(show all 25)
Graphical network of the top 20 diseases related to Carnitine Deficiency, Systemic Primary:
HPO human phenotypes related to Carnitine Deficiency, Systemic Primary:(show all 21)
MalaCards organs/tissues related to Carnitine Deficiency, Systemic Primary:31
Heart, Brain, Skeletal muscle, Kidney, Liver
Search GEO for disease gene expression data for Carnitine Deficiency, Systemic Primary.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet