Flashcards
Clinical Biochemistry Unseen Problem
Cards in this deck (26)
- 1Effects of an enzymatic blockage:Direct toxicity of accumulating product
Deficiency of downstream product
Activation of alternative pathways
Diversion of metabolic flux to secondary pathways
Alternative metabolite production - 2Pseudocholinesterase breaks down what?Suxamethonium = muscle relaxant during surgery. Lack of this enzyme = prolonged respiratory paralysis
- 3Glycogen Phosphorylase deficiency causes what disease?McCardle
- 4Alpha-1,4-glucosidase deficiency causes what disease?Pompe
- 5Alpha-1,4-glucosidase deficiency leads to what?Engorged lysosomes filled with glycogen
- 6How do you treat those lacking Alpha-1,4-glucosidase?Give them the enzyme.
- 7Glucose-6-Phosphatase deficiency leads to which disease?Von Gierke's.
- 8Glucose-6-Phosphatase deficiency causes build up of....G6P, Glycogen in liver and kidneys (hepato/renomegaly), lactic acid, fat in liver and blood, glucagon and adrenaline in blood.
- 9Glucose-6-Phosphatase deficiency leads to reduced...Glucose production between meals
- 10Symptoms of Glucose-6-Phosphatase deficiencyStunted growth, severe hypoglycaemia, hyperglucagonaemia and brain damage.
- 11How to treat Glucose-6-Phosphatase deficiency?Feed glucose and cornstarch
- 12Galactokinase deficiency symptomsGalactose in blood and urine, vomiting, diarrhoea, failure to thrive and hepatomegaly on consumption of milk. Cataracts, liver and nerve damage and retardation.
- 13What causes cataracts to form in Galactokinase deficiency?Galactitol
- 14Galactose-1-Phosphate Uridyltransferase deficiency causes build up of galactose-1-phosphate. Why is this a problem?It is toxic and inhibits Galactokinase
- 15How to treat Galactose-1-Phosphate Uridyltransferase deficiency?Galactose free diet
- 16What does phenylalanine hydroxylase deficiency cause?Phenylketonuria
- 17What builds up in phenylketonuria?Phenylalanine
- 18Phenylalanine build up inhibits what?Tyrosine transport and production of catecholamines
- 19What is phenylalanine converted to?Phenylpyruvate and phenylacetate
- 20Phenylpyruvate and Phenylacetate inhibit which enzyme and processes?Pyruvate kinase, energy synthesis (glycolysis and TCA cycle)
- 21Symptoms of Phenylalanine hydroxylase deficiencyRetardation, fair hair, blue eyes
- 22How to treat phenylalanine hydroxylase deficiencyLow phenylalanine diet, give tyrosine and avoid aspartame.
- 23Homogentisate oxidase deficiency causes what to build up?Homogentisic acid
- 24How pigment forms from homogentisic acidOxidation and polymerisation
- 25Name of pigment formed from homogentisic acidAlkaptons
- 26Alkaptons may lead to..arthritis and black urine
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- Clinical Biochem Flashcards on Clinical Biochemistry Unseen Problem, created by Melissa Wallis on 19/04/2018.
- Created by
- Melissa Wallis · Apr 2018
- Updated
- Apr 20, 2018
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