Fatty Acid Oxidation Disorders |
|
| Disease Name | Carnitine palmitoyl transferase deficiency, type 2 |
| Alternate name(s) | CPTII |
| Acronym | CPT2, CPTII |
| Disease Classification | Fatty Acid Oxidation Disorder |
| Variants | Yes |
| Variant name | Classical adult form |
| Symptom onset | Neonatal, infantile, adulthood |
| Symptoms | Severe infantile form: hypoketotic hypoglycemia, severe cardiac involvement, renal malformations, arrhythmias, sudden death. Adult form: weakness, exercise intolerance, myoglobinuria. |
| Natural history without treatment | Severe infantile form is often fatal. |
| Natural history with treatment | Even with treatment, the severe infantile form of CPT2 may be fatal. |
| Treatment | Avoidance of fasting, dietary supplementation with medium chain triglycerides (MCT), cornstarch supplementation, carnitine supplementation, intravenous glucose and carnitine in acute episodes. |
| Other | N/A |
| Physical phenotype | Renal malformations |
| Inheritance | Autosomal recessive |
| General population incidence | Rare |
| Ethnic differences | None |
| Population | N/A |
| Ethnic incidence | N/A |
| Enzyme location | Inner mitochondria membrane of skeletal muscle, cardiac and liver tissues |
| Enzyme Function | Convert LCFA-carnitines to corresponding Acyl-CoA's |
| Missing Enzyme | Carnitine palmitoyl transferase II |
| Metabolite changes | Low plasma and tissue carnitine levels, increased long-chain acylcarnitines, possible elevated CPK levels |
| Gene | CPT2 |
| Gene location | 1p32 |
| DNA testing available | Yes |
| DNA testing detail | N/A. |
| Prenatal testing | Enzyme analysis, analytes analysis and DNA analysis for known mutations. |
| 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=600650 |
| Genetests Link | www.genetests.org |
| Support Group | FOD Family Support Group Save Babies through Screening Foundation |
|
|
