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23 Cards in this Set
- Front
- Back
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Biochemicl genetics realates to
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Hereditary variation in the activities of enzymes involved in various metabolic pathways
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Heredity disorders occur when
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The activities of variant enzymes are reduced to levels that are inadequat for the vonversion of relevant substrates to their products, as a consequence of mutation in the gene for these enzymes
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Disorders are termed as
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Inborn errors of metabolism
Enzymopathies |
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enzymopathies
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Are inherited as Autosomal X-linked recessive disorder
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Enzymes are synthesiszed in
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significant excess
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Remaining activities of variant enzymes mayb be sufficient to maintain the normal levels of
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Substrates and their products
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Heterozygotes with what percent enzyme activity are considered clinically normal
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50%
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Enzyme dificiencies of Heme synthesesis are exceptions and are inherited in an
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autosomal dominant fashion
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The pathophysiological consequences of enzymopathies are attributable to either
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accumulation of substrates
upstream from the deficient enzyme in the metabolic pathway Or The deficiency of the products downstream |
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Enzyme deficiency may cause an increas rate of production of
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Normal Minor metabolites of the accumulated stustrate in branched pathways.
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Deficiencies of multiple enzymes may occur simultaneously due to
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A. The deficiency of the common cofactor
B. mutation in the common subunit activatior or procession protein C. the abnormality oin the organelle in which the enzyme are normally found |
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The pathological effect of an enzyme dificiency is confined to the tissue in which the subtrate
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Accumulates if it cannot diffuse out of the cell or organelle
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the pathological effect of an enzyme deficiency may be wide spread, involving many different organs and tissures if
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the substrate is a diffusible small molecule
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Aminoacidopathies are a number of clinical disorders in which a high concentration of
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Amion acids is found in the plasma and urine.
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An abnormally high concentration of an amino acid in urine is called an
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amionaciduria
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Aminoaciopathies 5 examples
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Alcaptonuria
Maple syrup disease Homocystinuria Albinism (Oculocutaneous albinism-OCA) Phenylketonuria (PKU) |
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Lysosomal Storage Disease examples are
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Tay-Sachs
Gaucher’s disease Krabbe’s disease Farber’s disease Niemann-pick disease Fabry’s disease Sandhoff’s disease Metachromatic leukodystrophy |
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Mucopolysaccharide disorders are a group of hereditary disorders that are clinically progressiv and characterized by accumulation of
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Glycoaminoglycans in various tissues, causing skeletal and extracellular matrix deformities
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Examples of Mucopolysaccharide disorders are
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Hurler’s syndrome
Hunter’s syndrome Sanfilippo’s syndrome |
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are a group of diseases caused by inherited defects or more of the enzyme involved in the synthesis and degradation of
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Glycogen Storage Diseases
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Glycogen Storage Diseases, what is uaually most effected
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Liver is usually most affected, but diseases may affect heart and muscle glycogen metabolism
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Types of glycogen storage diseases
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Type I: Von Gierke’s disease
Type II: Pompe’ disease Type III: Cori’s disease Type V: McArdle’s syndrome |
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Defects in Purine Synthesis
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Lesch-Nyhan Syndrome (HPRT deficiency)
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