Fatty Acid Oxidation Disorders

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Disease Name Carnitine acylcarnitine translocase deficiency
Alternate name(s) Carnitine acylcarnitine carrier (CAC), CAT deficiency
Acronym CAT or CACT
Disease Classification Fatty Acid Oxidation Disorder
Variants N/A
Variant name

N/A

Symptom onset INeonatal
Symptoms Hypoketotic hypoglycemia, hyperammonemia, hepatomegaly, SIDS, muscle weakness, cardiomyopathy with ventricular arrhythmia.
Natural history without treatment Hypoglycemia crisis leading to coma and death, heart abnormalities can also cause death.
Natural history with treatment Efficacy of treatment unknown. Disease reported to be commonly fatal. Individuals with residual enzymatic activity may have a better outcome.
Treatment Carnitine supplementation, restriction of long chain fatty acids. Cornstarch therapy, high carbohydrate/low-fat diet, avoidance of fasting.
Other Maternal pre-eclampsia during pregnancy has been reported, but may be coincidental.
Physical phenotype None
Inheritance Autosomal recessive
General population incidence Rare
Ethnic differences No
Population N/A
Ethnic incidence N/A
Enzyme location Heart, liver, skeletal muscles
Enzyme Function Transport long chain fatty acids into the mitochondria
Missing Enzyme Carnitine acylcarnitine translocase
Metabolite changes Low plasma free carnitine, elevated esterified carnitine in blood and urine, long-chain acylcarnitine fraction elevated in plasma.
Gene CAC
Gene location 3p21.31
DNA testing available Yes
DNA testing detail DNA testing available in the UK
Prenatal testing Acylcarnitine analysis on supernatant of cultured amniocytes, protein analysis in CVS and amnio, DNA if mutation is known.
MS/MS Profile C18:1, C18:2, C16, C16DC, C18:2DC, C18:1DC
OMIM Link http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212138
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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