Lecture 26-Biochemical Metabolism Flashcards Preview

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Flashcards in Lecture 26-Biochemical Metabolism Deck (25):
0

What are the symptoms of a UCD? What are the labs that show each of these?

- hyperammonemia: high ammonia and glutamine
- vomiting
- lethargy/coma: low ketones, proteins, reducing substrates, blood BUN, arginine
- respiratory alkalosis

2

Refresher: how do you treat UCDs?

- scavengers: sodium benzoate (glycine), phenylacetate: (glutamine)
- reduce protein intake
- reduce protein breakdown: insulin temporarily, high carb diet
- dialysis
- arginine supplementation

3

MSUD is a defect of what enzyme?

- branched chain ketoacid DH

4

MSUD results in accumulation of what?

- 2-oxo (keto)acids

5

What is a clinical way to determine MSUD disease? What are the labs results you can use to determine if it's MSUD (4)?

- Clinical: intense smell of urine

Labs:
- characteristic plasma aa abnormalities
- increase in BCAA
- disturbed BCAA ratio
- lots of ketones

6

treatment for MSUD? (4)

- dialysis
- high energy, low protein TPN/enteral feeds (MSUD specific)
- leu restriction
- thiamine supplementation

7

What is the primary toxic aa?

- leucine

8

what are the prognoses for MSUD? (4)

- decompensations
- disability
- pancreatitis
- epidermolysis

9

MMA/PA stand for _____

- methyl-malonyl CoA mutase
- proprionyl CoA carboxylase

10

MMA and PA do what?

- sequential steps in isoleucine and valine catabolism
- needed for odd chain FA breakdown

11

What are the symptoms of MMA/PA? (6)

- ACIDEMIA
- respiratory distress
- poor feeding
- abnormal muscle tone
- vomiting
- seizures
- toxic encephalopathy

12

What is diagnostic of MMA/PA

- methylcitric acid
- 3OH propionate

13

What accumulates in both MMA and PA diseases? Why is this bad?

- proprionic acid
- converted into many UOA biproducts

14

What do the labs on MMA/PA show?

- metabolic acidosis with increased anion gap
- ketosis
- hyperammonemia
- hypoglycemia
- hyperglycinemia
- neutropenia
- elevated amylase/lipase

15

How do you treat MMA/PA? (8)

- **rehydration
- **promote anabolism
- **VOMIT restriction (aa)
- **carnitine supplementation
- biotin/cobalamin supplementation
- metronidazole
- get rid of excess precursors
- dialysis

16

How do patients respond to treatment of MMA/PA?

- well if caught early and vitamin responsive, otherwise not well

17

Isovaleric acidemia is the result of a mutation in what? What kind of protein is this?

- isovaleryl-CoA DH

- mitochondrial flavoprotein in ETC

18

How do IVA patients generally present?

- Similar to MMA/PA but milder
- smell like sweaty gym socks

19

PKU is a deficiency in what enzyme?

- F-hydroxylase deficiency

20

PKU results in what symptoms? (3)

- MR
- autistic behavior
- seizures

21

How do you treat IVA?

- rehydrate
- promote anabolism
- give lots of gly and carnitine as a way to get rid of the Isovaleryl CoA
- restrict leucine

22

What is very effective at preventing further decompensation in IVA patients?

- gly
- carnitine

23

In the lecture, PKU was mentioned to emphasize _____

the importance of screening

24

What is PKU inheritance?

- AR

25

New population to worry about with PKU?

- moms who are restricting PKU