Errors in Metabolism Flashcards
what is the result of enzyme deficiencies
decrease in product resulting in increase in reactant
why is an enzyme deficiency band in terms of the general mechanism
what is accumulating oculi due toxic or the product could be vitally needed
give an example of an enzyme deficiency (TT1)
tyrosinemia type 1 - accumulation leads to succinylacetone production - toxic to liver - neonatal liver failure and hepatocellular carcinoma in later life
what are cofactor deficient
usually vitamins or trace elements
what are the three mechanisms that can cause pathology in inborn error of metabolism
accumulation of a toxin
energy deficiency
deficient production of essential metabolite or structural component
why is a urea cycle defects a problem
accumulation of ammonia - toxic
what produces ammonia and how is it usually dealt with
breakdown or protein and amino acids to urea which is excreted in urine
what are the symptoms of hyperammonaemia
lethargy, poor feeding, vomiting, tachyponoea, stimulates respiratory centre producing metabolic alkalosis
what is the treatment of hyperammonomaemia
stop breakdown of proteins or give dialysis
what is an organic acidaemia
defects in branched chain amino acid catabolism
causes hyperammonaemia
what are the 4
types of organic acidaemia
IVA, PA, MMA
maple syrup urine disease (urine sweet smelling)
what are the two test for organic acidaemias
check for amino acids or organic acids
what is porphyria disorder
partial block in the pathway to produce haem
what are the two types of porphyria disorders
acute and photosensitive
what is acute porphyria
accumulation of ALA and PBG - painful body and electrolyte disorders
