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 Save Babies through Screening Foundation |
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