Mitochondrial diseases
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal.Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.
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PGIMER, Chandigarh
MD


Apollo Hospital
Resident Medical Officer
Gauhati Medical College And Hospital
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A case of Abdominal epilepsy *Chief Complaints* Loss of consciousness one episode Pain abdomen and loose stools *History* A female patient 25 year old came to the OPD with complaints of loss of consciousness after an episode pf loose stools prior to which she had severe crampy abdominal pain. Symptoms lasted for about 3-4 min witnessed by her mother.No h/o tonic clonic movements. No h/o fever headache giddiness, visual disturbance or ENT symptoms No post episode headache limb weakness Known case of IBS on diet.Hypothyroid on 25 mcg Thyronorm OD.. *Vitals* Normal *Investigations* EEG normal.MRI brain small nodular subependymal heterotopia adjacent to the atrium of right lateral ventricle. *Physical Examination* Nothing significant *Diagnosis* Abdominal Epilepsy *Management* Started on Tab Carbamazepine 300 mg incremental dosage
Dr. Naga Tanooj0 Like2 Answers - Login to View the image
CHOICE OF MECHANICAL VENTILATION
Dr. Prashant Vedwan1 Like1 Answer - Login to View the image
A 67 yr old male is operated for gall bladder .post op report is as follows,the patient is now recieving chemotherapy:what to be done next ?
Dr. Saurabh Jain0 Like1 Answer
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