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ceecee1 > INBORN ERROR OF CARBOHYDRATE METABOLISM > Flashcards

INBORN ERROR OF CARBOHYDRATE METABOLISM Flashcards

1
Q

GSD Type: 0

A

Glycogen synthase

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2
Q

GSD Type: Ia

A

Glucose-6-phosphatase

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3
Q

Von Gierke:

a. Type Ia
b. Type Ib
c. Type IXa
d. Type IXb

A

a. Type Ia

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4
Q

Von Gierke is associated to what?

A

Hyperlipidemia

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5
Q

GSD Type: Ib

A

Glucose-6-phosphatase Translocase

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6
Q

GSD Type: II

A

Lysosomal Acid alpha glucosidase

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7
Q

Glycogen Debranching Enzyme

A

GSD Type IIIa and IIIb

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8
Q

Glycogen Branching Enzyme

A

GSD Type IV

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9
Q

Muscle Phosphorylase

A

GSD Type V

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10
Q

Glycogen Phosphorylase

A

GSD Type VI

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11
Q

Match:

a. Phosphorylase kinase
b. Phosphofructokinase
c. Phosphorylase

  1. VI
  2. VII
  3. IXa
  4. X
  5. XIa
  6. IXb
A

a. Phosphorylase kinase - 3. IXa
b. Phosphofructokinase - 2. VII
c. Phosphorylase - 6. IXb

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12
Q

Congenital deficiency of one of three enzymes involved in galactose metabolism

A

Galactosemia –

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13
Q

Three (3) enzyme involved in galactose metabolism:

A

➼Galactose-1-phosphate uridyltransferase
➼ Galactokinase
➼ Uridine diphosphate galactose-4-epimerase (GALE)

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14
Q

Diagnostic Test for Galactosemia

A

Erythrocyte Galactose-1-phosphate uridyltransferase

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15
Q

What is the most important findings in urinalysis for Galactosemia?

A

Melituria

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16
Q

What enzyme is deficient in Essential Fructosuria?

A

Fructokinase

17
Q

What enzyme is deficient in Hereditary Fructose Intolerance?

A

fructose-1,6-biphosphate aldolase B defect

18
Q

Result of inherited deficiencies of enzymes that control the synthesis or breakdown of glycogen

A

Glycogen Storage Disease (GSD)/ Glycogenoses

19
Q

All type of GSD are autosomal recessive, EXCEPT:

Ia
XI
IIIb
IXa

A

GSD IXa

20
Q

GSD that manifests with exercise intolerance, muscle cramps, fatigue, weakness

A

MUSCLE GLYCOGENOSES/ GSD

21
Q

GSD that manifests hepatomegaly, hypoglycemia, and growth retardation

A

HEPATIC GLYCOGENOSES/ GSD

22
Q

GSD Type that causes liver damage: (5)

A

GSD Type I, III, IV, VI, IX (1,3,4,6,9)

23
Q

Enzymes increased in Muscle Glycogenoses: (4)

A

Creatine Kinase
Aspartate Aminotransferase (AST)
Lactate Dehydrogenase (LD)
Aldolase

ceecee1 (9 decks)

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