Inborn Errors of Metabolism Flashcards Preview

BOARDS > Inborn Errors of Metabolism > Flashcards

Flashcards in Inborn Errors of Metabolism Deck (69)
Loading flashcards...
1

organic aceidemias usually occur after introduction of

protein

2

normal blood gas with elevated ammonia

urea cycle defect

3

definitive diagnosis of fatty acid metabolism defect

plasma acylcarnitine profile

4

fatty acid metabolic defect usually presents when

after a benign illness when PO intake was decreased, usually w/ heptaomegaly

5

urea cycle defect treatment

decrease serum ammonia by decreasing protein and giving IV glucose

6

most important measurement to determine etiology of hypoglycemia in infant

urine ketones and urine reducing substances

7

galactosemia treatment

soy based formula

8

definitive diagnosis fo galactosemia

measuring low GALT (galactose-1-phosphate uridyltransferase) in RBC's

9

common infections with galactosemia

gram negative exL: E. coli

10

what side effect is reversible with diet change in galactosemia

cataracts

11

hepatosplenomegaly and positive urine reducing substances

galactosemia

12

cause of hypoglycemia in beckwith wiedemann

islet cell hyperplasia

13

treatment for refractory hypoglycemia in infants

diazoxide

14

glycogen storage disease type 1 aka

von Gierke disease

15

hypoglycemia, distended abdomen w/ hepatomegaly, doll-like/cherubic facies, elevated triglycerides and cholesterol, lactic acidosis and elevated uric acid

glycogen storage disease type 1 (von gierke)

16

cause of glycogen storage disease type 1 (von gierke)

deficiency of hepatic glucose 6 phosphatase (final step in liver to produce glucose)

17

glycogen storage disease usually present when

once infants start sleeping through the night (fasting)

18

glycogen storage disease type 1 treatment

frequent feeds, continuous glucose at night until 2, then cornstarch before bed

19

cause of glycogen storage disease type 2 (pompe)

deficiency in lysosomal breakdown of glycogen

20

glycogen storage disease type 2 aka

Pompe disease

21

infant becomes floppy with FTT, develops macroglossia, cardiomegaly and hypotonia though hard muscles

glycogen storage disease type 2 (pompe)

22

classic time of onset for maple syrup urine disease

first week of life

23

which amino acids are elevated in maple syrup urine disease

VIAL
Valine
Isoleucine
Alloisoleucine
Leucine

24

shallow breathing pattern w/ profound lethargy, irritability, poor PO, hypertonic, ketonuria, musty urine

maple syrup urine disease

25

homocystinuria error

in methionine metabolism

26

cause of early death in homocytinuria

thromboembolism

27

light colored eyes, skin, hair and unpleasant odor

homocystinuria

28

how to diagnose homocystinuria

homocysteine in urine

29

homocystinuria treatment

diet low in protein, and methionine with betaine, folate and B12 supplements

30

homocystinuria lens

posterior displacement