Catalog

Carnitine palmitoyltransferase II deficiency, severe infantile form

No MMS code

Link to WHO Definition

Carnitine palmitoyltransferase II deficiency, severe infantile form – http://id.who.int/icd/entity/1488785910

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterised by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycaemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias.