GLİKOJEN DEPO HASTALIKLARI Flashcards

1
Q

Glikojen sentaz enzim eksikliği?

A

Tip0=Aglikojenez

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2
Q

Lizozomal enzim olan alfa-1,4-glikozidaz (asit maltaz) eksik
Kan glukoz düzeyi normal
Kardiyomegali
?

A

Tip2-Pompe

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3
Q

Dal yıkıcı enzim amilo-1,6-glikozidaz eksik
ANORMAL glikojen birikimi
?

A

Tip3-Forbes(cori)

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4
Q

Dal yapıcı enzim glikozil alfa-4:6 transferaz eksik
ANORMAL glikojen birikimi
?

A

Tip4-Anderson

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5
Q

Kas fosforilazı eksik
Egzersize karşı intolerans mevcut
?

A

Tip5-Mc Ardle

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6
Q

KC fosforilazı eksik
Asempt. hipoglisemi?

A

Tip6-Hers

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7
Q

Fosfofruktokinaz eksik
Hemoliz mevcut
?

A

Tip7-Taurfi

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8
Q

GLUT 2 defekti olan glikojen depo hastalığı?

A

Tip11-Fanconi-Bickel Sendromu

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9
Q

Anormal glikojen birikimi görülen depo hastalıkları?

A

Tip3-Forbes(cori)
Tip4-Anderson

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10
Q

Glukoz-6-Fosfataz enzimi eksik?

A

Tip1-Von Gierke

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11
Q

Açlık hipoglisemisi
Hiperlaktikasidemi
Metabolik Asidoz
Hiperlipidemi
Hiperürisemi
?

A

Tip1-Von Gierke

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12
Q

Von Gierkede KC ve dalak???

A

KC: Hepatomegali
Dalakta büyüme GÖRÜLMEZ

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13
Q

Hangi dokuda ‘‘miktar’’ olarak daha fazla glikojen depolanır?

A

Kas

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14
Q

Hangi dokuda ‘‘oran’’ olarak daha fazla glikojen depolanır?

A

KC

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