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 |