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 Save Babies through Screening Foundation |
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