Carnitine palmitoyltransferase II deficiency, infantile

Preferred Label : Carnitine palmitoyltransferase II deficiency, infantile;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cpt II deficiency, hepatic; Cpt2 deficiency, infantile; Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia; Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, 600650.0001);

Laboratory abnormalities : Decreased carnitine palmitoyltransferase II (CPT2) activity; Decreased levels of CPT2 protein; Decreased palmitate oxidation; Increased liver function tests; Hyperammonemia; Increased creatine kinase; Reduced total and free carnitine in plasma and tissue; Increased long-chain acylcarnitine;

Prefixed ID : #600649;

Details

Origin ID

600649;

UMLS CUI

C1833511;

Automatic exact mappings (from CISMeF team)
- carnitine palmitoyltransferase II deficiency [DO Concept]
Broader ORDO disease(s)
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
CISMeF manual mappings
- Carnitine palmitoyltransferase II deficiency, severe infantile form [ICD-11 More detail]
Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH concept]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH Supplementary Concept]
DO Cross reference
- carnitine palmitoyltransferase II deficiency [DO Concept]
Genes related to phenotype
- Carnitine palmitoyltransferase II [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated circulating hepatic transaminase concentration [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypoketotic hypoglycemia [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Increased liver function tests [HPO term]
- Infantile onset [HPO term]
- Lethargy [HPO term]
- Macrovesicular hepatic steatosis [HPO term]
- Respiratory arrest [HPO term]
- Seizure [HPO term]
- Ventricular tachycardia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
See also inter- (CISMeF)
- Severe infantile form of carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT 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, severe infantile form [ICD-11 More detail]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH concept]

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