Cytochrome C Oxidase: Treatment, Cost and Side Effects

Cytochrome C Oxidase is a key enzyme of cell respiration and controls the last step of food oxidation in the electron transfer chain. It occurs as a mutipolypeptide enzyme and plays an important role in oxidative phosphorylation and apoptosis. Cytochrome C Oxidase deficiency is a very rare inherited metabolic disorder. It is also called as Complex IV Deficiency, COX Deficiency or Deficiency of mitochondrial respiratory chain complex IV. This disorder is characterized by the deficiency of the Cytochrome C Oxidase enzyme, that helps to regulate energy production in the mitochondria. The deficiency of the Cytochrome C Oxidase may be either localized or generalized. There are four different types of Cytochrome C Oxidase deficiency. They are Benign infantile mitochondrial myopathy type COX deficiency, French – Canadian Type COX deficiency, Infantile mitochondrial myopathy type COX deficiency and Leigh's syndrome, which is a sub acute necrotizing encephalomyelopathy. This disorder affects both the males and females, equally. There is no particular cure or treatment for this disorder currently. The treatment of this rare metabolic disorder is directed towards the specific symptoms that are present in each individual. Signs and symptoms of this disorder usually begin before the age of two years but can also appear later in mildly affected individuals. This deficiency is diagnosed with the help of physical examinations, laboratory tests, medical history evaluation and assessment of signs and symptoms and from imaging and biopsy studies. The treatment is aimed at improving the symptoms of the disease and slows down the progression of the disease. The results of the treatment varies from one individual to another, depending upon their particular symptoms. The individuals with severe conditions usually die in their infancy itself and individuals with milder conditions grow into adulthood.

Currently, there is no definite cure for Cytochrome C Oxidase deficiency disorder, which is a very rare inherited metabolic disorder. The treatment varies from person to person and is aimed towards the specific symptoms and signs present in a particular individual. Hence, the effectiveness of the treatment also varies from one person to the other. The treatment can only slow down the progression of the disease and cannot reverse any damage that has already occurred. Dietary supplements and certain vitamins have been beneficial in the treatment of some individuals. Health care professionals and Medical specialists should treat the affected child with various treatment techniques depending upon the symptoms present. The specialists include pediatricians, cardiologists, nephrologists, pulmonologists, orthopedists, neurologists and hepatologists. Early diagnosis and intensive treatment and care is essential for a spontaneous recovery, particularly in the case of benign infantile mitochondrial myopathy. Individuals with Leigh's syndrome may experience a rapid demise. Other types of support like genetic counseling is advised for the affected individuals and their families. Some affected individuals are also benefited from physical, occupational and speech therapies that can help improve their specific conditions. Anticonvulsants are used to treat seizures associated with this rare disorder. Intravenous fluids are administered to individuals who are unable to take fluids orally, to treat their dehydration and vomiting, caused due to this illness. Individuals with COX deficiency or any other mitochondrial deficiency are recommended to avoid fasting. The life expectancy of a child with Cytochrome C Oxidase deficiency syndrome cannot be predicted and depends upon the degree of severity of the disorder. Specific management and treatment must be pursued after consulting a health care professional and according to the recommendation provided.

Individuals who are affected by the very rare inherited metabolic disorder that causes a deficiency in the Cytochrome C Oxidase enzyme must pursue relevant treatment procedures. The treatment can be administered immediately after the onset of the symptoms or signs of this disorder which can usually occur within two years of age. Even though this is a non curable, inherited disorder, spontaneous recovery can occur in the case of benign infantile mitochondrial myopathy, when an early diagnosis is made and intensive care and treatment is provided.

Since there is no proper cure available for COX deficiency disorder, currently, there is no definite eligibility for undergoing treatment on the same.

There are many diseases associated with the Cytochrome C Oxidase deficiency disorder like encephalomyopathy, which is a severe condition that begins in infancy and affects multiple systems, mainly the dysfunction of the brain and muscular weakness; Hypertrophic cardiomyopathy, a rare condition where the heart muscles get abnormally thick; and fatal lactic acidosis. There are also a vast number of side effects associated with the drugs given for the treatment of the COX deficiency. The common side effects include dizziness, nausea, vomiting, diarrhea, indigestion, flatulence, sinusitis, headache, abdominal pain, pharyngitis, upper respiratory tract infections, peripheral edema, rashes, rhinitis, etc. Certain drugs can cause fatal stomach conditions, causing ulcers, bleeding and adverse reactions in the intestines. They also increase the risk for heart diseases and cardiac disorders.

There is no specific cure for the Cytochrome C Oxidase Deficiency syndrome. It is an inherited metabolic disorder. The treatment is directed towards specific symptoms and signs that are apparent in each individual. The treatment is different for each individual and completely depends upon the signs and symptoms experienced by that particular individual. Since the method of treatment differs from one person to the other, there is no specific guidelines, post treatment. Most children will require treatment throughout their lives or at least till there is a spontaneous recovery. Affected individuals should have regular laboratory tests and medical checkups. They should follow all the guidelines as recommended by the medical professionals. The affected individuals can also go for occupational and speech therapies. Counseling for the individual and their families are also recommended.

Since the COX Deficiency syndrome does not have a cure at present, there is no specific time of recovery from this rare, inherited disorder. Children with severe conditions usually die in their infancy. Spontaneous recovery is possible only in the case of benign infantile mitochondrial myopathy, provided that an early diagnosis and intensive care is provided.

The Cytochrome C Oxidase deficiency Disorder is a very rare condition. Due to this, there is no specific range of price for the cost of the treatment of this disorder in India. The cost depends upon the types of drugs prescribed, the hospital or medical professional consulted, and the type of treatment undergone. There is also no specific cure for this condition, which is inherited. The treatment is life long in most cases.

The deficiency disorder of Cytochrome C Oxidase enzyme is an Inherited metabolic disorder. At present, there is no proper cure for this condition, so the effects of the results of the treatment cannot be predicted. Also, the method of treatment is different for each individual because the treatment is mainly aimed towards the prime symptoms and signs experienced by each individual. Since the treatment differs from one person to another, the results of the treatment also differs from one individual to another, depending upon their particular symptoms of the condition.

There is no effective cure for COX deficiency disorder as yet. The disorder may have alternative treatment methods, even though there is not enough evidence to prove that the disease can be completely cured, with any if the treatment methods available today. For individuals who want to go in for an alternative treatment method, they can opt for Homeopathic treatment or other herbal treatment methods. There are also many other therapies that can be used to treat this mitochondrial disorder.