CPT deficiency type 1
Autosomal recessive disease.
Synopsis
Cardiomegaly
Cardiac rhythm disturbances
Hepatomegaly
Diarrhea
Maternal anomalies
- Acute fatty liver in pregnancy
- HELLP syndrome
Biology
Hypoketotic hypoglycemia
Renal tubular acidosis
Mild to moderate hyperammonemia
Transient hyperlipidemia
Elevated creatinine kinase
Elevated transaminases
No dicarboxylic aciduria
No ketonuria
Normal to elevated total plasma carnitine
Elevated free carnitine
Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes)
Decreased CPT1 activity
Decreased long-chain fatty acid oxidation
Etiology
carnitine palmitoyltransferase deficiency I is caused by mutation in the gene CPT1A encoding carnitine palmitoyltransferase IA (MIM.600528).