Metabolism Of Non Glucose And Glycosaminoglycans Flashcards

1
Q

What are the two deficiency related to fructose Metabolism ?

A

Essential fruckosuria
Heriditary fructose intolerance

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2
Q

Which enzyme is Deficient in fructosuria?

A

Frucktokinase

Converts FRUCTOSE TO F-1-P in liver

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3
Q

CF OF FRUCKOSURIA ?

A

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

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4
Q

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

A

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

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5
Q

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

A

GLACTOKINASE
AR
Galactose in blood and urine

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6
Q

Classic GALACTOSEMIA ENZYME ?

A

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

TREATMENT : Exclude Galactose and Lactose

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7
Q

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

A

ALPHA L Iduroniasde
Accumulation of dermatan and heparin sulfate

CF
CORNEAL CLOUDING
HEPATOSPLENOMEGALY
DEATH IN 10 YEARS

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8
Q

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

A

IDURONATE SULFATASE
ACCUMULATION OF DERMATAN AND HEPARIN SULFATE

CF
SIMILAR TO HURLER
NO CORNEAL CLOUDING
NO HEPATOSPLENOMEGALY

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9
Q

Note : only Hurler syndrome have ?

A

HEPATOSPLENOMEGALY
Corneal clouding

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10
Q

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

A

LYSOSOMAL HYDROLASES

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11
Q

Lysosomal hydrlases must ?

A

Phosphorylated on mannose in order to be targeted to lysosomes

Failure - excrete out of cell - I CELL DISEASE

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