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25 Cards in this Set

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Alcaptonuria
Deficiency in homogentisate oxidase.
Homogentisate accumulates --> urine darkens upon standing
Benign
Maple Syrup Urine Disease
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
Accumulation of cystathionine and its metabolites due to deficiency of cystathionase
No clinical symptoms
Homocystinuria
Deficiency of cystathionine synthetase.
Accumulation of homocysteine in urine.
Methionine and metabolites are high in blood.
Mental retardation, osteoporosis, lens disclocation*
Histidinemia
Deficiency of histidase
Elevated levels of histidine in blood and urine
Mental retardation is common, but not always present.
Essential Amino Acids
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
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
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
Produced by activated T cells
Stimulates T cells (helper, cytotoxic, NK)
Stimulates B cells
IL-3
Secreted by activated T cells
Stimulates bone marrow stem cells
IL-4
Secreted by activated helper T cells and mast cells
Stimulates B cells
Increases IgG and IgE
IL-5
Secreted by activated helper cells
Promotes B cell prolif
Increases IgA and synthesis of eosinophils
IL-6
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
Inhibites cytokine release from macrophages
Inhibits interfereon synthesis by Th1 cells
IL-12
Activates NK cells
Induces Th --> Th1
Increases CTL numbers
IFN-gamma
Stimulates macrophages, NK cells
Inhibits Th2 cells
TNF
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