Metabolism Of Non Glucose And Glycosaminoglycans Flashcards
What are the two deficiency related to fructose Metabolism ?
Essential fruckosuria
Heriditary fructose intolerance
Which enzyme is Deficient in fructosuria?
Frucktokinase
Converts FRUCTOSE TO F-1-P in liver
CF OF FRUCKOSURIA ?
FRUCTOSE IN URINE AND BLOOD
HEXOKINASE becomes primary pathway for converting fructose to fructose 6-P
What enzyme Deficiency causes Heriditary fructose intolerance and what are its CF?
ALDOSE B
Accumulation of Fructose 1-P
Severe Hypoglycemia
Vomit
Kindey failure
DEATH
COMA
What enzyme Deficiency causes GLACTOKINASE DEFICIENCY and what are its CF.?
GLACTOKINASE
AR
Galactose in blood and urine
Classic GALACTOSEMIA ENZYME ?
GALACTOSE 1-P URIDYL TRANSFERASE
AR
Accumulation of Galactol in lens of eye
INFANTILE
HEPATOMEGALY
TREATMENT : Exclude Galactose and Lactose
What enzyme is Deficient in Hurler syndrome and it’s CF?
ALPHA L Iduroniasde
Accumulation of dermatan and heparin sulfate
CF
CORNEAL CLOUDING
HEPATOSPLENOMEGALY
DEATH IN 10 YEARS
What enzyme is Deficient in Hunter syndrome and it’s CF ?
IDURONATE SULFATASE
ACCUMULATION OF DERMATAN AND HEPARIN SULFATE
CF
SIMILAR TO HURLER
NO CORNEAL CLOUDING
NO HEPATOSPLENOMEGALY
Note : only Hurler syndrome have ?
HEPATOSPLENOMEGALY
Corneal clouding
What is the key identityng enzyme between Hurler syndrome and I CELL DISEASE ?
LYSOSOMAL HYDROLASES
Lysosomal hydrlases must ?
Phosphorylated on mannose in order to be targeted to lysosomes
Failure - excrete out of cell - I CELL DISEASE