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Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic 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.
Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. [2]
Although research is ongoing, treatment options are currently limited; vitamins are frequently prescribed, though the evidence for their effectiveness is limited. [29] Pyruvate has been proposed in 2007 as a treatment option. [30] N-acetyl cysteine reverses many models of mitochondrial dysfunction. [31]
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It is necessary for most users of the CPT code (principally providers of services) to pay license fees for access to the code. [19] In the past, AMA offered a limited search of the CPT manual for personal, non-commercial use on its web site. [20] CPT codes can be looked up on the AAPC (American Academy of Professional Coders) website. [21]
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In health care, diagnosis codes are used as a tool to group and identify diseases, disorders, symptoms, poisonings, adverse effects of drugs and chemicals, injuries and other reasons for patient encounters. Diagnostic coding is the translation of written descriptions of diseases, illnesses and injuries into codes from a particular classification.