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carnitine palmitoyltransferase 1 deficiency
Epidemiology: rare
Pathology:
- disorder of long-chain fatty acid oxidation
Genetics:
- autosomal recessive
- associated with defects in CPT1A
Clinical manifestations:
- onset is in infancy or early childhood
- severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness
Laboratory:
- CPT1A gene mutation
General
carnitine palmitoyltransferase deficiency
Database Correlations
OMIM 255120
References
OMIM :accession 255120