Carnitine Palmitoyltransferase II deficiency is an autosomal recessive metabolic defect of long chain fatty acids, that is characterized by an accumulation of these fatty acids in the body tissues, causing serious complications. Three different forms of CP2 Deficiency have been recognized. The lethal neonatal form is the most severe of these. Infants with this condition present with respiratory failure, seizures and coma, liver failure with hypoketotic hypoglycemia, and cardiac arrhythmias, within days of being born. Abnormalities in kidney and brain function may also be noticed. Rarely, the condition may also present with cerebral periventricular cysts and cystic dysplastic kidneys. The neonatal form of the disorder is extremely rare, having been described in a little more than 10 families worldwide.
As in most metabolic disorders, tandem mass spectrometric analysis is the preferred mode of detection. Initial screening involves detection of abnormal levels of long chain acylcarnitines in the serum. This in conjunction with reduced CPT2 enzyme activity and reduced serum concentrations of serum carnitine point to the condition. Genetic testing is also available, which can be used to check for mutations in the CPT2 gene. The first line of treatment concentrates on providing a high carbohydrate and low fat diet, and methods to convert the toxic long chain fatty acids to harmless acylcarnitines. This may require intermittent administration of glucose, avoiding fasting, and taking frequent meals. Other forms of management are secondary and depend upon the feature evinced. Prognosis for the neonatal form is extremely poor. Survival does not exceed more than a few months at most.