Autosomal recessive fatty acid oxydation disease.

Synopsis

 onset <30 months
 disease precipitated by infection, fasting, or intercurrent illness

 cardiac anaomalies

• Cardiomegaly
• Cardiac rhythm disturbances

 hepatomegaly
 diarrhea
 encephalopathy

• hypotonia
• lethargy
• seizures

 maternal hepatic steatosis

• maternal acute fatty liver

 HELLP syndrome

Biochemical disorders

 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
 Decreased CPT1 activity
 Decreased long-chain fatty acid oxidation

Diagnosis

 Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes)

Etiology

 carnitine palmitoyltransferase deficiency I is caused by mutation in the gene encoding carnitine palmitoyltransferase IA (CPT1A) (MIM.600528).

See also

 carnitine palmitoyltransferase deficiencies

• carnitine palmitoyltransferase deficiency type 2 (CPT2)
  • lethal neonatal CPTD2 (MIM.608836)
  • infantile CPTD2 (MIM.600649)
  • adult-onset CPTD2 (MIM.255100)