carnitine palmitoyltransferase deficiency type 1
MIM.255120 11q13
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
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)