Chemical Pathology 5 - Metabolic disorders and screening Flashcards Preview

Year 5 Pathology ICSM > Chemical Pathology 5 - Metabolic disorders and screening > Flashcards

Flashcards in Chemical Pathology 5 - Metabolic disorders and screening Deck (26)
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1

Deficiency of which enzyme causes phenylketouria?

Phenylalanine hydroxylase

2

What builds up in PKU that causes toxicity?

Tyrosine

3

What number must you use when requesting a metabolic screen?

OMIM number

4

What will be the result of not treating PKU shortly after birth?

IQ <50

5

How is PKU diagnosed?

Based on blood phenylalanine level, as >400 different mutations can cause PKU!

6

How quickly does PKU treatment need to be initiated in order to be effective?

First 6 weeks of life

7

What is the test for cystic fibrosis in the neonate?

High immune reactive trypsin

8

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

9

What metabolic defect can cause hyperammonaemia?

Urea cycle defect

10

How can hyperammonaemia be treated?

Remove ammonia via sodium benzoate or sodium phenyl acetate
Reduce ammonia production (low protein diet)

11

What is the typical triad of signs for organic aciduria?

Hyperammonaemia
Metabolic acidosis
High anion gap

12

What unusual odour might be smelt on a patient with isovaleric acidaemia?

Cheesy and sweaty

13

What are the typical neurological findings in organic acidurias?

Truncal hypotonia and limb hypertonia

14

What condition causes chronic intermittent organic aciduria?

Reye syndrome

15

Recall 3 drugs that can precipitate symptoms in Reye syndrome

Salicylates
Anti-emetics
Valporate

16

What specialist test should be done in cases of hyperammonaemia?

Blood spot carnitine profile

17

Which inherited metabolic disorder causes a hypoketotic hypoglycaemia?

MCADD

18

What is the most common disorder of carbohydrate metabolism?

Gal-1-put

19

How should Gal-1-Put be treated?

Abstain from drinking milk

20

What may be the consequence of not identifying MCADD in infancy?

Bilateral cataracts

21

Recall 3 signs of glycogen storage disease type 1

Hypoglycaemia
Neutropaenia
Lactic acidosis

22

How does Gal-1-Put present in neonates?

Diarrhoea
Vomiting
Conjugated bilirubinaemia

23

When, and in which organ, do mitochondrial disorders present?

At any age in any organ!

24

Recall 3 mitochondrial disorders

BARTH syndrome
MELAS
Kearns Sayre syndrome

25

What abnormal blood results would be suggestive of a mitochondrial disorder?

Elevated lactate, even when fasted
Unexplained raised CK

26

What is the typical histological finding in mitochondrial disorders?

Ragged red fibres

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