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).