Terms & DefinitionsESSENTIAL PREFIXES:
ACIDOSIS: Elevated amounts of organic acids in the blood, which accumulate when food is not properly metabolized.
BARTH SYNDROME: Cardiomyopathy-Neutropenia Syndrome. Marked by elevated levels of 3-methylglutaconic acid in the blood and urine.
CARNITINE: (beta-hydroxy-gamma-N-trimiethylamino-butyrate). Responsible for the transport of long chain fatty acids into mitochondria.
DYSPHASIA: Lack of coordination in speech, and failure to arrange words in an understandable way; due to brain lesion. Aphasia is the complete or near complete absence of speech, and is used to describe a more severe situation than dysphasia.
ELECTRON TRANSPORT CHAIN (ETC.): Also known as the respiratory chain: The mitochondrial enzymes (also known as complexes I, II, III and IV) that are needed to generate the electron and proton "gradient" that is utilized by complex V to generate ATP.
GENE: The fundamental unit of heredity. Genes are located on strands of DNA found in the cells and mitochondria.
HEMIANOPSIA: Loss of vision, due to brain malfunction, for the right or left portion of vision, which may involve either or both eyes.
KSS: Kearns-Sayre Syndrome, which is the combination of CPEO, cardiac conduction defects and progressive hearing loss, usually due too a large deletion in part of the mitochondrial DNA.
LACTATE or LACTIC ACID: A chemical that is formed when sugars are broken down for energy without the presence of adequate oxygen. Lactic acid cannot be used by the body and will accumulate in blood and urine. Lactic acid causes the muscle pain when one runs too fast for too long. In people with mitochondrial disorders, lactic acid forms when the oxidative capacity (ability to burn foods using oxidative phosphorylation) of the person is impaired.
MAD: Multiple Acyl-CoA Dehydrogenase Deficiency.
NARP: Neuropathy Ataxia and Retinitis Pigmentosa.
PARENTAL EMPOWERMENT: Parents taking charge, assuming responsibility and exercising appropriate and rationale power in a situation. (i.e.: obtaining a second opinion, requesting copies of laboratory reports, requesting or rejecting a muscle biopsy).
RESPIRATORY CHAIN: See Electron Transport Chain.
SCAD: Short-Chain Acyl-CoA Dehydrogenase Deficiency.
SNE: Subacute Necrotizing Encephalomyelopathy, or Leigh Disease or Syndrome.
TITUBATION: The appearance of staggering or stumble.
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