Definition:
Carnitine deficiency is a metabolic state in which carnitine concentrations in plasma and tissues are less than the levels needed for normal function of the organism. Biologic effects of low carnitine levels may not be clinically significant until they reach less than 10-20% of the norm.
Diagnosis:
Skin biopsy can be done to confirm diagnosis of primary carnitine deficiency by demonstrating reduced carnitine transport in fibroblasts that express the transporter. Fibroblasts may be utilized for fatty acid oxidation studies or enzyme assay.
Treatment:
In acute situations, if the patient presents with hypoketotic hypoglycemic encephalopathy, insure stabilization with 10% dextrose in water at rates of 10 mg/kg/min IV initially; adjust infusion rate depending on blood glucose concentrations.
Symptoms and Signs:
One classic initial presentation of primary carnitine deficiency is hypoketotic hypoglycemic encephalopathy, accompanied by hepatomegaly, hyperammonemia, and elevated liver transaminases. Cardiomyopathy is the other classic presentation (affecting older children); onset may arise with rapidly progressive heart failure. Cardiomyopathy can also be seen in older patients with a metabolic presentation, even if they are asymptomatic from a cardiac standpoint
Causes:
Primary carnitine deficiency is caused by a deficiency in the plasma membrane carnitine transporter, with urinary carnitine wasting resulting from systemic carnitine depletion.
:
systemiccarnitinedeficiency
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
