Primary Carnitine Deficiency

Preferred Label : Primary Carnitine Deficiency;

NCIt synonyms : Carnitine Transporter Deficiency; Carnitine Uptake Deficiency; Systemic Primary Carnitine Deficiency;

NCIt related terms : Renal Carnitine Transport Defect; Carnitine Deficiency;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.;

Details

Origin ID

C98864;

UMLS CUI

C0342788;

Currated CISMeF NLP mapping
- Carnitine deficiency, systemic primary [OMIM Phenotype]
- Carnitine transporter deficiency [ICD-11 More detail]
- Carnitine uptake deficiency [LOINC component]
- Primary carnitine deficiency [ICD-9 code]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- Systemic primary carnitine deficiency [ORDO Disease]
- renal carnitine transport defect [SNOMED Notion]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]
DO Cross reference
- systemic primary carnitine deficiency disease [DO Concept]
Manual NTBT mappings (CISMeF)
- carnitine deficiency [Indication]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine deficiency, systemic primary [OMIM Phenotype]
- Carnitine transporter deficiency [ICD-11 More detail]
- Carnitine uptake deficiency [LOINC component]
- Primary carnitine deficiency [ICD-9 code]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- Systemic primary carnitine deficiency [ORDO Disease]
- Systemic primary carnitine deficiency [MedDRA LLT]
- renal carnitine transport defect [SNOMED Notion]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC22A5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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