MCM Final - Inborn Errors in Metabolism

Question 0

Von Gierke’s Disease

Answer 0

glycogen storage disease
deficient in glucose 6 phosphatase
enlarged liver, sever hypoglycemia, lactic acidosis, ketosis, hyperuricemia, and hyperlipidemia

Question 1

maple syrup urine disease

Answer 1

amino acid metabolism disease

branched chain not working

burnt sugar smell**

Question 2

Pompe’s Disease

Answer 2

glycogen storage disease

deficient in lysosomal 1,4 D glucosidase

cardiac failure in infancy

Question 3

Cori’s Disease

Answer 3

glycogen storage disease

deficient amylo 1,6 glucosidase (debranching enzyme)

milder type I (Von Gierkes)

Question 4

Andersen’s Disease

Answer 4

glycogen storage disease

deficient branching enzyme in liver
-causes liver cirrhosis

Question 5

McCardles Disease

Answer 5

glycogen storage disease

deficient phosphorylase in liver **

muscle cramps, easily fatigued

Question 6

Hers Disease

Answer 6

glycogen storage disease

deficient phosphorylase enzyme in liver**

milder type I (von gierkes)

Question 7

glycogen storage disease

Answer 7

can’t break down glycogen to supply glucose

Question 8

symptoms of glycogen storage disease

Answer 8

low blood sugar, enlarged liver, retarded growth

Question 9

are glycogen storage diseases fatal?

Answer 9

no

Question 10

clinical symptom of mcardles disease?

Answer 10

burgundy colored urine

contains myoglobin

Question 11

are glycogen storage disease dominant or recessive?

Answer 11

recessive

Question 12

what enzyme is deficient in mcardles disease?

Answer 12

glycogen phosphorylase

Question 13

muscle fatigue in mcardles disease?

Answer 13

NOT due to lactic acid build up

-but lack of ATP

alternative energy source is creatine kinase to produce ATP

Question 14

what enzyme is deficient in von gierkes disease?

Answer 14

glucose 6 phosphatases

glucose 6 phosphate > glucose

located in the liver and kidneys (not muscle or brain)

Question 15

Phenylketonuria (PKU)

Answer 15

cannot convert phenylalanine to tyrosine

deficient enzyme is phenylalanine hydroxylase (PAH)
-uses tetrahydrobiopterin (BH4)
also can lead to PKU

symptoms:

- self-mutilation
- fair skin
- mousy odor

Question 16

phenylalanine hydroxylase

Answer 16

PAH

converts Phenylalanine to tyrosine

deficient in PKU

Question 17

tetrahydrobiopterin

Answer 17

BH4

enzyme converting phenylalanine to tyrosine

deficient can lead to PKU

Question 18

guthrie test

Answer 18

always indicator of amino acid metabolism

test for presence of phenylalanine
-indicates PKU

Question 19

HPLC analysis

Answer 19

test for phenylalanine levels

helps in PKU diagnosis

instantaneous**

Question 20

5-hydroxytryptophan

Answer 20

decarboxylated to serotonin

inhibited by high concentrations of phenylalanine

Question 21

PKU therapy?

Answer 21

restrict diet to low Phe

supplement for Tyr THAT’S IT!

monitor Phe levels in blood

no enzyme**

Question 22

foods high in Phe?

Answer 22

proteins

Question 23

do any metabolic disease have a cure?

Answer 23

nope!