Mitochondria Basics
An inherited chronic illness that can be present at birth or develop later in life, which can cause debilitating physical, developmental, and cognitive disabilities with symptoms including poor growth, loss of muscle coordination, muscle weakness and pain.
What is a Mitochondrial disease?
An individual who is unable to grow properly and healthy from a baby to a full size adult due to ineffective mitochondrial activity, such as stunted growth.
What is poor growth?
When the child receives one mutated copy of a gene from each parent. There is a 25% chance that each child in the family will inherit a mitochondrial disease.
What is Autosomal Recessive Inheritance?
Tests of strength and endurance, which can involve activities like repeatedly making a fist, or climbing up and down a small flight of stairs.
What is a physical or exercise test?
The use of Coenzyme Q10, B complex vitamins: thiamine (B1), biotin, pantothenic acid, Vitamin E, selenium, other antioxidants and vitamin C to treat Mitochondrial disease.
What is Vitamin Therapy?
Are known as the "powerhouse of the cell" and found in every cell in the body and are necessary to sustain life and support growth by producing ATP.
What is a Mitochondria?
When the mitochondrial is unable to supply enough energy to the cells of body resulting in the bacteria, fungi and viruses to reproduce and adapt quickly.
What is an increased risk of infection?
When the child receives one mutated copy of a gene from either parent. There is a 50% chance that each child in the family will inherit a mitochondrial disease.
What is Autosomal Dominant Inheritance?
This exam can include tests of reflexes, vision, speech and basic cognitive (thinking) skills.
What is a Neurological Exam?
A doctor working in metabolic medicine with a combine understanding of biochemistry and metabolism. Deal with adult patients where the chemical processes in the body do not function properly and may cause various health problems.
What is a Metabolic Specialist?
ATP is the short name.
What is the short name for Adenosine Triphosphate?
System which innervates all viscera and influence their activity locally as well as mediate global changes to the metabolic state of the organism. This system maintains blood pressure, regulates the rate of breathing, influences digestion, urination, and modulates sexual arousal.
What is the Autonomic Nervous System?
The fundamental, physical, and functional unit of heredity. It is comprised of nucleotides that is responsible for the physical and heritable characteristics or phenotype.
What is a gene?
The analyzing of mitochondrial DNA and, if results are negative, testing the nuclear DNA for genes known to be involved in mitochondrial disease.
What is Genetic testing?
A treatment in which a substance reduces damage due to oxygen, such as that caused by free radicals. This includes enzymes and other substances, such as vitamin C, vitamin E, and beta carotene, which are capable of counteracting the damaging effects of oxidation.
What is an Antioxidant Treatment?
This membrane is freely permeable to small molecules and contains special channels capable of transporting large molecules in Mitochondria.
What is the outer Mitochondrial membrane?
An uncontrolled electrical activity in the brain, which may produce a physical convulsion, minor physical signs, thought disturbances, or a combination of symptoms.
What is a seizure?
Genes develop a change of their own that is not inherited from a parent. This occurs when the gene is damaged or changed to alter the genetic message carried by that gene.
What is a mutation?
A close look at the patients energy-producing pathways in the muscle. Special studies on muscle tissue have long been the standard for investigating mitochondrial or other metabolic myopathies, tissue rich in mitochondria is needed for this study.
What is Muscle Biopsy?
An application of nutrition as a preventative or corrective treatment of disease, usually involves the modification of an existing dietary lifestyle to promote optimum health.
What is Diet Therapy?
Oxygen is the final electron accepter in the Electronic Transport Chain.
What element is the final electron acceptor in the Electron Transport Chain, ETC?
A complex neurobehavioral condition that includes impairments in social interaction and developmental language and communication skills combined with rigid, repetitive behaviors. Also called ASD.
What is Autism?
A unique type of inheritance which the mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers. If this disease is inherited in this way, there is a 100% chance that each child in the family will inherit a mitochondrial disease.
What is Mitochondrial Inheritance?
Screening done at birth as part of what is called the Newborn Screening. It is done by drawing a few drops of blood from the newborn’s heel but in older children, a urine or blood sample is obtained and submitted for testing.
What is Metabolic Screening?
A therapy which includes physical, speech or respiratory therapy. While these therapies will not reverse the disease process, they may preserve or even improve the patient’s existing functioning, mobility and strength.
What is Supportive Therapy?