Random stuff from biochem and immuno
Terms
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- Alcaptonuria
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Deficiency in homogentisate oxidase.
Homogentisate accumulates --> urine darkens upon standing
Benign - Maple Syrup Urine Disease
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Deficiency in branched chain alpha ketoacid dehydrogenase.
Elevated branched chain AA's and their alpha-keto analogues in plasma and urine.
High mortality.
Neurologic problems common. - Propionyl CoA Carboxylase Deficiency
-
Elevated levels of propionate in blood
Odd numbered FA's accumulate in liver
Developmental problems
Enzyme contains biotin - Cystathioninuria
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Accumulation of cystathionine and its metabolites due to deficiency of cystathionase
No clinical symptoms - Homocystinuria
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Deficiency of cystathionine synthetase.
Accumulation of homocysteine in urine.
Methionine and metabolites are high in blood.
Mental retardation, osteoporosis, lens disclocation* - Histidinemia
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Deficiency of histidase
Elevated levels of histidine in blood and urine
Mental retardation is common, but not always present. - Essential Amino Acids
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Phenylalanine
Valine
Tryptophan
Threonine
Isoleucine
Methionine
Histidine
Arginine
Leucine
Lysine - Maternal PKU
-
Causes microcephaly, mental retardation, congenital heart defects
Dietary control must begin before conception. - PKU
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Deficiency of phenylalanine hydroxylase
Hyperphenylalaninemia
CNS: mental retardation, failure to walk, talk or grow, seizures, hyperactivity, tremor, microcephaly.
Hypopigmentation (tyrosine needed to make melanin) - Deficiency of dihydrobiopterin reductase or dihydrobiopterin synthetase
- Hyperphenylalaninemia, decreased catecholamine and serotonin synthesis.
- IL-1
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Produced by macrophages and other APCs.
Receptors on almost all cell types.
-stimulation of T cells to secrete IL-2 and express IL-2 receptors
-Pyrogenic
-Prolif, activate, chemotax - IL-2
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Produced by activated T cells
Stimulates T cells (helper, cytotoxic, NK)
Stimulates B cells - IL-3
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Secreted by activated T cells
Stimulates bone marrow stem cells - IL-4
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Secreted by activated helper T cells and mast cells
Stimulates B cells
Increases IgG and IgE - IL-5
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Secreted by activated helper cells
Promotes B cell prolif
Increases IgA and synthesis of eosinophils - IL-6
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Stimulates production of acute phase reactants
Stimulates B cells - IL-7
- Stimulates pre-B and pre-T cells
- IL-8
- Stimulates chemotaxis and adhesion of neutrophils
- IL-10
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Inhibites cytokine release from macrophages
Inhibits interfereon synthesis by Th1 cells - IL-12
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Activates NK cells
Induces Th --> Th1
Increases CTL numbers - IFN-gamma
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Stimulates macrophages, NK cells
Inhibits Th2 cells - TNF
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Produced by APCs.
Antitumor effects
Principal response to gram-neg bacteria -
Type II Glycogen Storage Disease
(Pompe's disease) -
Lysosomal alpha-glucosidase deficiency
Generalized excessive glycogen concentration in abnormal vacuoles
Normal blood sugar
Severe cardiomegaly and muscle weakness
Early death -
Type V Glycogen Storage Disease
(McArdle's Syndrome) -
Skeletal muscle glycogen phosphorylase deficiency
skeletal muscle affected, liver normal
Temporary weakness and cramping of skeletal muscle after exercise
No rise in blood lactate after exercise
Normal mental development
Fair to good prognosis -
Type I Glycogen Storage Disease
(von Gierke's disease) -
Glucose-6-phosphatase deficiency
Affects liver, kidney, intestine
Severe fasting hypoglycemia
Fatty liver, hepatomegaly
Hyperlacticacidemia and hyperuricemia