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Health and Wellness
Elliptocytosis – Break up of red blood cells, due to change in a gene
Pyruvate Kinase – Deficiency of an enzyme in red blood cells
Phosphofructokinase – The pacemaker enzyme of glucose. Converts fructose 6 phosphate to fructose 1.6 bisphosphate.
Haemophilia A – A sex linked genetic disease affecting males that results from a deficiency of clotting factor VIII. A protein factor that is required for normal blood coagulation.
Haemophilia B – A form of haemophilia in males that results from a deficiency of clotting factor IX. Transmitted as an X-linked trait.
Von Willebrand Disease – A hereditary platelet disorder caused by defective or deficient Von Willebrand factor, a protein, involved in normal blood clotting that reduces adhesion to collagen but not aggregation. Both bleeding time and coagulation are increased.
Autosomal Recessive – Mutation carried on an autosome that is deleterious only in homozygotes.
Autosome – A chromosome no involved in sex determination
Deleterious – “Hurtful” or “Destructive”
Homozygotes – Nucleus, cell or organism with identical alleles of one or more specific gene.
X-Linked – On the X chromosome. An X-linked gene travels with the X chromosome.
Leukocyte Adhesion – An inherited disorder in which there is a defective CD18 adherence complex that disturbs Leukocyte Chemotaxis. It is characterized by recurrent bacteria infections and impaired wound healing.
Adherence – Refers to the ability of bacteria to stick to host surfaces
PRA – Plasma Renin Activity
Cone Degeneration (Dystrophy) – A retinal abnormality in which colour perception is severely deficient and typical changes occur in electroretinogram.
Electroretinogram – A record of the retinal action currents produced in the retina by adequate light stimulus.
Dystrophin – Protein from skeletal muscle that is missing in Duchenne Muscular Dystrophy.
Duchenne Muscular Dystrophy – A specific form of Muscular Dystrophy that is inherited as a sex-linked recessive trait and thus confined young males and to females with Turner Syndrome.
Muscular Dystrophy – A group of diseases characterized by progressive degeneration and/or loss or muscle fibers without nervous system involvement.
Mucopolysaccharidosis – Any group of lysomal storage disease that have in common a disorder in metabolism of mocopolysaccharides, as evidence by excretion of various mocopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage and connective tissue.
Gangliosidosis – Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides.
Globoid Cell Leukodystrophy – Dysmyelination Disease, autosomal recessive, usually presents by 1 year. Specific enzyme deficiency. Dysmylinating Disease – Abnormal formation or maintenance or myline enzymatic defect in infants and young kids.
Glycogenosis Type – Any of the glycogen deposition disease characterized by accumulation of glycogen abnormal chemical structure in tissue, there may be enlargement of the liver, or striated muscle, including the tongue, with progressive muscular weakness.
Lipofuscinosis – Abnormal storage of any one of a group of fatty proteins
Myotoniacongenita – A congential genetic disease characterized by tonic spasm rigidity of certain muscles when an attempt is made to move them after a period of rest or when mechanically stimulated
Narcolepsy – A disorder of sleep associated with excessive daytime sleepiness, involuntary daytime sleep episodes, disturbed nocturnal sleep.
Cystinuria – An inherited abnormality of renal tubular transport of dibasic amino acid leading to massive urinary excretion of cystine, lysine, arginine and ornithine (ameno acids)
Nephropathy – Any disease of the kidneys
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