Carnitine palmitoyltransferase II deficiency, severe infantile form

Preferred Label : Carnitine palmitoyltransferase II deficiency, severe infantile form;

ICD-11 definition : The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterized by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias.;

Details

Origin ID

1488785910;

UMLS CUI

C1833511;

CISMeF manual mappings
- Carnitine palmitoyltransferase II deficiency, infantile [OMIM Phenotype]
Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- Severe infantile form of carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH concept]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, infantile [OMIM Phenotype]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH concept]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH Supplementary Concept]

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