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23 Cards in this Set

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