systemic primary carnitine deficiency
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
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systemic primary carnitine deficiency
Summary
systemic primary carnitine deficiency is a rare disease[1]. It draws 24 Wikipedia views per month (rare_disease category, ranking #216 of 627).[2]
Key Facts
- systemic primary carnitine deficiency's instance of is recorded as rare disease[3].
- systemic primary carnitine deficiency's instance of is recorded as class of disease[4].
- systemic primary carnitine deficiency's subclass of is recorded as amino acid metabolic disorder[5].
- systemic primary carnitine deficiency's subclass of is recorded as fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy[6].
- systemic primary carnitine deficiency's subclass of is recorded as disorder of carnitine cycle and carnitine transport[7].
- systemic primary carnitine deficiency's MeSH descriptor ID is recorded as C536778[8].
- systemic primary carnitine deficiency's OMIM ID is recorded as 212140[9].
- systemic primary carnitine deficiency's DiseasesDB is recorded as 31103[10].
- systemic primary carnitine deficiency's Freebase ID is recorded as /m/06lyh_[11].
- systemic primary carnitine deficiency's KEGG ID is recorded as H01589[12].
- systemic primary carnitine deficiency's eMedicine ID is recorded as 942233[13].
- systemic primary carnitine deficiency's Disease Ontology ID is recorded as DOID:14365[14].
- systemic primary carnitine deficiency's Orphanet ID is recorded as 158[15].
- systemic primary carnitine deficiency's ICD-9-CM is recorded as 277.81[16].
- systemic primary carnitine deficiency's ICD-9-CM is recorded as 277.82[17].
- systemic primary carnitine deficiency's NCI Thesaurus ID is recorded as C98864[18].
- systemic primary carnitine deficiency's health specialty is recorded as endocrinology[19].
- systemic primary carnitine deficiency's genetic association is recorded as SLC22A5[20].
- systemic primary carnitine deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14365[21].
- systemic primary carnitine deficiency's exact match is recorded as http://identifiers.org/doid/DOID:14365[22].
- systemic primary carnitine deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_158[23].
- systemic primary carnitine deficiency's UMLS CUI is recorded as C1260388[24].
- systemic primary carnitine deficiency's UMLS CUI is recorded as C0342788[25].
- systemic primary carnitine deficiency's ICD-10-CM is recorded as E71.41[26].
- systemic primary carnitine deficiency's ICD-10-CM is recorded as E71.3[27].
Why It Matters
systemic primary carnitine deficiency draws 24 Wikipedia views per month (rare_disease category, ranking #216 of 627).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[28] It is known by 24 alternative names across languages and contexts.[29]