Flashcards in Chemical Pathology 5 - Metabolic disorders and screening Deck (26)
Deficiency of which enzyme causes phenylketouria?
What builds up in PKU that causes toxicity?
What number must you use when requesting a metabolic screen?
What will be the result of not treating PKU shortly after birth?
How is PKU diagnosed?
Based on blood phenylalanine level, as >400 different mutations can cause PKU!
How quickly does PKU treatment need to be initiated in order to be effective?
First 6 weeks of life
What is the test for cystic fibrosis in the neonate?
High immune reactive trypsin
What is MCADD?
Enzyme deficiency that prevents production of acetyl CoA, which permits glucose sparing
Therefore, if you can't break down fat, you may die of hypoglycaemia
What metabolic defect can cause hyperammonaemia?
Urea cycle defect
How can hyperammonaemia be treated?
Remove ammonia via sodium benzoate or sodium phenyl acetate
Reduce ammonia production (low protein diet)
What is the typical triad of signs for organic aciduria?
High anion gap
What unusual odour might be smelt on a patient with isovaleric acidaemia?
Cheesy and sweaty
What are the typical neurological findings in organic acidurias?
Truncal hypotonia and limb hypertonia
What condition causes chronic intermittent organic aciduria?
Recall 3 drugs that can precipitate symptoms in Reye syndrome
What specialist test should be done in cases of hyperammonaemia?
Blood spot carnitine profile
Which inherited metabolic disorder causes a hypoketotic hypoglycaemia?
What is the most common disorder of carbohydrate metabolism?
How should Gal-1-Put be treated?
Abstain from drinking milk
What may be the consequence of not identifying MCADD in infancy?
Recall 3 signs of glycogen storage disease type 1
How does Gal-1-Put present in neonates?
When, and in which organ, do mitochondrial disorders present?
At any age in any organ!
Recall 3 mitochondrial disorders
Kearns Sayre syndrome
What abnormal blood results would be suggestive of a mitochondrial disorder?
Elevated lactate, even when fasted
Unexplained raised CK