Carnitine palmitoyltransferase II deficiencyFrom Wikipedia, the free encyclopedia

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Carnitine palmitoyltransferase II deficiency
Classification and external resources
Carnitine
ICD-9
277.85
OMIM
255110
DiseasesDB
32534
eMedicine
ped/321
Carnitine palmitoyltransferase II deficiency (CPT-II) is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.
The adult myopathic form of this disease was first characterized in 1973 by DiMauro and DiMauro.[1] It is the most common inherited disorder of lipid metabolism affecting the skeletal muscle of adults.[2] CPT II deficiency is also the most frequent cause of hereditary myoglobinuria.[3] Symptoms of this disease are commonly provoked by prolonged exercise or periods without food.
Contents
1 Overview
2 Clinical Presentation
2.1 Adult form
2.2 Infantile form
2.3 Neonatal form
3 Diagnosis
4 Treatment
5 Molecular Genetics
5.1 Amino acid consequences of some reported mutations
6 Biochemistry
6.1 Enzyme Structure
6.2 Catalytic Mechanism
6.3 Biochemical Significance of Disease-Causing Mutations
6.4 Enzyme Activity and Disease Severity
7 Related Clinical Trials
8 See also
9 External links
10 References