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25 Cards in this Set
- Front
- Back
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Alcaptonuria
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Deficiency in homogentisate oxidase.
Homogentisate accumulates --> urine darkens upon standing Benign |
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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. |
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Propionyl CoA Carboxylase Deficiency
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Elevated levels of propionate in blood
Odd numbered FA's accumulate in liver Developmental problems Enzyme contains biotin |
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Cystathioninuria
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Accumulation of cystathionine and its metabolites due to deficiency of cystathionase
No clinical symptoms |
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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* |
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Histidinemia
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Deficiency of histidase
Elevated levels of histidine in blood and urine Mental retardation is common, but not always present. |
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Essential Amino Acids
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Phenylalanine
Valine Tryptophan Threonine Isoleucine Methionine Histidine Arginine Leucine Lysine |
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Maternal PKU
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Causes microcephaly, mental retardation, congenital heart defects
Dietary control must begin before conception. |
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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) |
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Deficiency of dihydrobiopterin reductase or dihydrobiopterin synthetase
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Hyperphenylalaninemia, decreased catecholamine and serotonin synthesis.
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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 |
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IL-2
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Produced by activated T cells
Stimulates T cells (helper, cytotoxic, NK) Stimulates B cells |
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IL-3
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Secreted by activated T cells
Stimulates bone marrow stem cells |
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IL-4
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Secreted by activated helper T cells and mast cells
Stimulates B cells Increases IgG and IgE |
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IL-5
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Secreted by activated helper cells
Promotes B cell prolif Increases IgA and synthesis of eosinophils |
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IL-6
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Stimulates production of acute phase reactants
Stimulates B cells |
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IL-7
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Stimulates pre-B and pre-T cells
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IL-8
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Stimulates chemotaxis and adhesion of neutrophils
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IL-10
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Inhibites cytokine release from macrophages
Inhibits interfereon synthesis by Th1 cells |
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IL-12
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Activates NK cells
Induces Th --> Th1 Increases CTL numbers |
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IFN-gamma
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Stimulates macrophages, NK cells
Inhibits Th2 cells |
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TNF
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Produced by APCs.
Antitumor effects Principal response to gram-neg bacteria |
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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 |
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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 |
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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 |
