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47 Cards in this Set
- Front
- Back
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What are the inborn errors in metabolism ?
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Diseases caused by errors in metabolic processes
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When dose a metabolic inherited disease occur?
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When a critical enzyme is disabled or if a control mechanism for a metabolic pathway is affected
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What type of inheritance do inborn errors in metabolism usually demonstrate ?
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Autosomal recessive
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What effects dose a disorder of amino acid metabolism usually cause ?
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decreased breakdown and accumulation in the blood plasma
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What happens if the renal threshold for amin acids in the blood is exceded
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excreted in the urine
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What is aminoacidurias?
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Increased amino acids in the urine
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what is a primary amionacidurias caused by ?
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inborn errors in amino acid metabolism
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What is the cause of phenylketouria (PKU)
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deficiency of phenylalamine hydroxylase (more common or of the enzymes co-factors (rarer)
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What accumulates as a result of PKU?
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Phenylamine (PHE)
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What occurs at high conc's on PHE?
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Direct transmission to form phenylpyruvate which can be excreted in the urine
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Why is there no effect of PKU in pregnancy ?
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The mother converts the PHE for the child
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what sample is taken a few days after birth?
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Heel prick
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How many days after birth is the heel prick test done?
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6 days
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What can a build up of PHE lead to ?
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Brain and organ damage
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What is the treatment for PKU
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Life long diet of low PHE
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What does phenylalamine hydroylase normal convert L-phenylalamine too?
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L-tyrosine
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In albinisim what conversion is defective ?
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Tyrosine to dihydrophylalamine
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what dose dihydrophylalamine do?
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It's an intermediate in melanin production
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What physically occurs as a result of albinisim ?
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Loss of pigmentation in eyes/hair and skin
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What is the diffecency of alkaptonuria ?
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Homogenistic acid oxalase
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In alkaptonuria what bulids up ?
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HGA
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What can be seen as a result of alkaptouria ?
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If urine is left to stand for a while it darkens and it will darken in the presence of an alkaline
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What might occur is the black pigment excessively produced in alkaptouria is deposited in cartilage?
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arthritis
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What are glycogen storage diseases caused by ?
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Defects in the synthesis or breakdown of glycogen
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What are the two effects can glycogen storage disease have on glycogen?
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Glucose either accumulates or is not synthesised
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What do all forms of glycogen storage disease cause ?
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ability to maintain blood glucose levels
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What is the type of inheritance in galactosaemia
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Autosomal recessive
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What is the deficiency in galactosaemia?
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Galactos-1-phosphate unidyl transferase
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What happens to the conc. of galactase in blood?
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It increases
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What symptoms appear in the 2nd week of life in galactosaemia?
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Vomiting, lethargery ,failure to thrive and jaundice
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What do all types of glycogen storage diseases effect
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The ability of the body to maintain blood glucose levels
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What are the two locations at which the disease effect will effect severity
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Brain and liver
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What type of inheritance dose galactosaemia have
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Autsomal domminant
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What is the deficiency in galactosaemia
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Galactos-1-phosphate undyl transferase
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in galactosaemia what syptoms appear in the 2nd week of life
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vommiting , lethargic,failure to thrive and jaundice
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what is the treatment for galactosaemia
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supplement diet with milk that dose not contain lactose
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What are the effects of not treating galactosaemia
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lt brain damage, damage to the lens of the eye and liver
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What are the three things that lipid metabolism disorders can effect
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a) lipoprotein metabolisim
b) impaired breakdown of glycolipids c) decreased metabolisim of long chain fatty acids which can lead to paralysis and death |
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What can lipid storage disease in childhood lead to?
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CNS damage-paralysis and death
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What are the most common forms of lipid storage diseases?
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a) tay sachs
b) gauchers disease c)nieman-pick |
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What are the polyphrias
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A group of disorders caused by defects in the synthesis of porphrin leading to decreased haem production
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What is the normal patten inhertiance of polyphrin metabolisim disorders?
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Autosomal domminant
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What is the only phphrin dissorder not to use autsomal recessive inheritance
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Congenital erythropoietic porphria (autosomal recessive
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What are the 3 common symptoms of porhyrin disorders/
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a) photosensitivity
b) life long brain damage c) haemolytic anemia |
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what might the excessive production of porphrin do?
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damage the liver and erythropoietic system
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What dose Wilson's disease do ?
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Deffective copper metabolisism
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What are the effects of wilsons disease
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Damage to the CNS and liver
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