pakc Flashcards
(23 cards)
What are inborn errors in of metabolisim?
Inherited enzyme mutations
What are the 6 classifications of inborn errors of metabolisim?
Carefully Assess Unusual Features Prior to Laboratory tests
Disorders of carbohydrate metabolism: For example, glycogen storage disease, G6PD deficiency.
Disorders of amino acid metabolism: For example, phenylketonuria, maple syrup urine disease.
Urea Cycle Disorders : For example, Carbamoyl phosphate synthetase I deficiency
Disorders of fatty acid oxidation and mitochondrial metabolism: For example, Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD)
Disorders of purine or pyrimidine metabolism: For example, Lesch–Nyhan syndrome.
Lysosomal storage disorders: For example, Gaucher’s disease, Niemann–Pick disease.
WHat are the two types of enzymes in blood plasma?
Actively Secreted Enzymes: For instance, the liver secretes zymogens of protease enzymes crucial for blood coagulation. Upon activation, these proteases exhibit enzymatic functions within the blood.
Enzymes Released during Cell Turnover: These enzymes typically function intracellularly and do not catalyze reactions in blood plasma. In healthy individuals, their levels remain relatively constant, reflecting a steady state where the release from damaged cells is balanced by removal from the plasma.
What is Serum?
It is plasma minus the clotting factors
What are three isoenzymes of creatine phosphokinase?
What is the function of phosphocreatine?
Serve as energy reserve during muscle contraction
What is LDH an enzyme of and what is it a marker of?
enzyme: It is an enzyme of anaerobic glycolsis
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Marker: It is a non specific marker of tissue ischemia (also elevated in hemolytic anemia and some cancers)
What are the tissue specific Iso enzymes of LDH?
LDH 1: In heart muscle
LDH 2: In red blood cells
LDH 5: In liver and skeletal muscle
What are the three bio markers of an MI?
Which troponins are used as a bioindicator for MI?
Troponin I and T
Fill in the table
What are the 4 enzymes that profile liver diseases?
ALT
ASP
ALP
gamma GT
What two enzymes are most abundent in the liver?
AST and ALT
What is the enzyme that is quite specific for liver damage?
ALT
If ALT > AST what is the diagnosis?
Suggests mild liver damage, fatty liver disease, Acute Viral hepatitis
Bc viral has L but no C
If AST > ALT what is the diagnosis?
Alcoholic liver hepatitis
ALP, GGT, ALT elevated
Cholestasis ( biliary obstruction)
ALP elevated, GGT normal
Bone disease
What does an increase in a-amylase suggest?
Salivary diseases: Mumps, salivary canlculi
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Pancreatic diseases:
Acute Pancreatitis
non-specific
What does a rise in lipase suggest?
Acute pancreatitis
More specific that a-amylase
Why are Streptokinase / urokinase / tissue plasminogen activator adminstered?
Adminstered to disolve clots in MI and deep vein thrombosis (DVT)
Why is asparaginase adminsterd?
Treament of leukemia
Why are Trypsin and lipase adminstered?
Treatment of pancreatic insufficiency
