Fatty Acid Oxidation Disorders

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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

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

Genetic Alliance

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