Carnitine-acylcarnitine translocase deficiency
Overview
Carnitine-acylcarnitine translocase deficiency: A very rare inherited metabolic disorder where long-chain fatty acids can't be metabolized properly because the compound needed to transport it is faulty. Ultimately this prevents certain fats (long-chain acylcarnitine) being converted to energy and results in a build up of the fat which is harmful to body organs and tissues.
Symptoms
The list of signs and symptoms mentioned in various sources for Carnitine-acylcarnitine translocase deficiency includes the 13 symptoms listed below: * Hypoglycemia * Vomiting * Gastroesophageal reflux * Chronic mild blood ammonia level elevation * Severe skeletal myopathy * Mild hypertrophic cardiomyopathy * Ventricular dysrhythmias * Seizures * Breathing problems * Low ketone level * Unconsciousness * Enlarged liver * Muscle weakness
Diagnosis
The phrase "signs of Carnitine-acylcarnitine translocase deficiency" should, strictly speaking, refer only to those signs and symptoms of Carnitine-acylcarnitine translocase deficiency that are not readily apparent to the patient. The word "symptoms of Carnitine-acylcarnitine translocase deficiency" is the more general meaning; see symptoms of Carnitine-acylcarnitine translocase deficiency. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Carnitine-acylcarnitine translocase deficiency. This medical information about signs and symptoms for Carnitine-acylcarnitine translocase deficiency has been gathered from various sources, may not be fully accurate, and may not be the full list of Carnitine-acylcarnitine translocase deficiency signs or Carnitine-acylcarnitine translocase deficiency symptoms. Furthermore, signs and symptoms of Carnitine-acylcarnitine translocase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Carnitine-acylcarnitine translocase deficiency symptoms.