Disorder Factsheet for Professionals

Fatty Acid Oxidation Disorders

Disease Name	Carnitine palmitoyl transferase deficiency, type 1A (liver)
Alternate name(s)	CPT1 deficiency, CPT1 liver
Acronym	CPT1, CPT1A
Disease Classification	Fatty Acid Oxidation Disorder
Variants	Yes
Variant name	Carnitine palmitoyl transferase deficiency, type 1B - muscle type
Symptom onset
Symptoms	Hypoketotic hypoglycemia, hepatomegaly, hyperammonemia, renal tubular acidosis.
Natural history without treatment	Possible developmental delay due to hypoglycemic episode, seizures, coma and death may occur.
Natural history with treatment	Attacks seem to get less frequent and less severe with age. Treatment cannot reverse developmental delay (if present).
Treatment	Avoidance of fasting, IV glucose during illnesses, dietary reduction of long chain fatty acids, dietary supplementation with medium chain fatty acids, cornstarch supplementation.
Other	Maternal complications in pregnancy including acute fatty liver of pregnancy and pre-eclampsia have been reported but may be coincidental.
Physical phenotype	None
Inheritance	Autosomal recessive
General population incidence	Rare
Ethnic differences	None
Population	N/A
Ethnic incidence	N/A
Enzyme location	Liver, kidney, fibroblasts and heart
Enzyme Function	Transfer long chain fatty acids into mitochondria
Missing Enzyme	Carnitine palmitoyl transferase 1A
Metabolite changes	Elevated plasma carnitine level, absence of dicarboxylic aciduria, elevated CPK (possible).
Gene	CPT1
Gene location	11q13
DNA testing available	May be available on a research basis.
DNA testing detail	If a mutation in a proband is detected, DNA carrier screening is possible.
Prenatal testing	Protein analysis in CVS and amniocytes. If a mutation in a proband is detected, DNA prenatal diagnosis via CVS & amniocytes is possible..
MS/MS Profile	Absence of long and medium chain acyl carnitines
OMIM Link	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255120
Genetests Link	www.genetests.org
Support Group	FOD Family Support Group http://www.fodsupport.org Save Babies through Screening Foundation http://www.savebabies.org Genetic Alliance http://www.geneticalliance.org

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This project is supported by a grant from the Maternal and Child Health Bureau,
Health Resources and Service Administration, Genetic Services Branch,
MCH Project #:1H46 MC 00189-03 http://mchb.hrsa.gov

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Last updated: 07/28/2005