Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency.
Nida MirzaRavi BharadwajSmita MalhotraAnupam SibalPublished in: Journal of pediatric genetics (2022)
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.
Keyphrases
- fatty acid
- liver injury
- end stage renal disease
- replacement therapy
- liver fibrosis
- drug induced
- ejection fraction
- newly diagnosed
- chronic kidney disease
- mental health
- cell death
- nitric oxide
- patient reported outcomes
- insulin resistance
- adipose tissue
- skeletal muscle
- smoking cessation
- urinary tract infection
- weight loss