Metabolism Of Non Glucose And Glycosaminoglycans

Question 1

What are the two deficiency related to fructose Metabolism ?

Answer 1

Essential fruckosuria
Heriditary fructose intolerance

Question 2

Which enzyme is Deficient in fructosuria?

Answer 2

Frucktokinase

Converts FRUCTOSE TO F-1-P in liver

Question 3

CF OF FRUCKOSURIA ?

Answer 3

FRUCTOSE IN URINE AND BLOOD
HEXOKINASE becomes primary pathway for converting fructose to fructose 6-P

Question 4

What enzyme Deficiency causes Heriditary fructose intolerance and what are its CF?

Answer 4

ALDOSE B
Accumulation of Fructose 1-P
Severe Hypoglycemia
Vomit
Kindey failure
DEATH
COMA

Question 5

What enzyme Deficiency causes GLACTOKINASE DEFICIENCY and what are its CF.?

Answer 5

GLACTOKINASE
AR
Galactose in blood and urine

Question 6

Classic GALACTOSEMIA ENZYME ?

Answer 6

GALACTOSE 1-P URIDYL TRANSFERASE
AR
Accumulation of Galactol in lens of eye
INFANTILE
HEPATOMEGALY

TREATMENT : Exclude Galactose and Lactose

Question 7

What enzyme is Deficient in Hurler syndrome and it’s CF?

Answer 7

ALPHA L Iduroniasde
Accumulation of dermatan and heparin sulfate

CF
CORNEAL CLOUDING
HEPATOSPLENOMEGALY
DEATH IN 10 YEARS

Question 8

What enzyme is Deficient in Hunter syndrome and it’s CF ?

Answer 8

IDURONATE SULFATASE
ACCUMULATION OF DERMATAN AND HEPARIN SULFATE

CF
SIMILAR TO HURLER
NO CORNEAL CLOUDING
NO HEPATOSPLENOMEGALY

Question 9

Note : only Hurler syndrome have ?

Answer 9

HEPATOSPLENOMEGALY
Corneal clouding

Question 10

What is the key identityng enzyme between Hurler syndrome and I CELL DISEASE ?

Answer 10

LYSOSOMAL HYDROLASES

Question 11

Lysosomal hydrlases must ?

Answer 11

Phosphorylated on mannose in order to be targeted to lysosomes

Failure - excrete out of cell - I CELL DISEASE