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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. The disorder presents in one of three ...
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
27 sie 2004 · Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood).
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Explore symptoms, inheritance, genetics of this condition.
What are the symptoms of carnitine palmitoyltransferase deficiency? Children with CPT deficiency tend to show symptoms within the first few years of life. But in some cases, symptoms may begin as an adult. CPT deficiency can cause: Symptoms of low blood sugar (hypoglycemia)
The three sub categories of CPT2 deficiency present very different signs and symptoms: The Neonatal form – onset soon after birth: Difficulty breathing; Seizures; Irregular heart beats; Liver failure; Abnormalities associated with the brain and kidneys; Low blood sugars and low level of ketones (hypoketotic hypoglycemia) Facial abnormalities
