Fatty Acid Oxidation Disorders

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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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