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Main Topics > Biochemical > Flashcards

Biochemical Flashcards

1
Q

Urea cycle disorders

A
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2
Q

Alkaptonuria

A
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3
Q

Glutaric aciduria type 1 (GA1)

Defects in……..metabolism
What increases in urine?
what is the marker in NBS?

A

Lysin

urine organics with elevated glutaric,
3-OH glutaric

on NBS panels ( increase in C5-DC)

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4
Q

Canvan disease

Mutation in …….gene
Main symptomes ( 2 points)…..
high…….in th Urine

A

ASPA gene
Hypotonia and optic atrophy
N-acetyl aspartic acid (NAA)

Canvan > NAA

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5
Q

Fatty acid oxidation

A
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6
Q

Fatty acid oxidation disorders summary:
General points:
MCAD:
VLCAD:
GAII:
CPTII:

A
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7
Q

In fatty acid oxidation, ketogenesis occurs in the ……
Direct acetyl-coA oxidation occurs in the……

A

liver
Brain

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8
Q

What are the main symptomes of fatty acid oxidation disorders?

A

Hypoglycemia with encephalopathy
May have hepatomegaly woth elevated liver enzyme
Hyperammonia and metabolic disorders

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9
Q

PA and MMA Metabolism

A
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10
Q

Organic acid disorders

A
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11
Q

In carbohydrate disorders, explain PDC deficiency

A
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12
Q

In carbohydrate disorders, explain galactosemia?

A
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13
Q

What are the symptomes and diagnosis of galactosemia?

A
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14
Q

What are different types of Glycogen storage diseases (GSD)?
Explain glycogenesis?

A

GSD types I to IV

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15
Q

Explain GSD type I

A
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16
Q

Explain GSD type II

A
17
Q

Explain GSD type III

A
18
Q

Explain GSD type IV

A
19
Q

Explain GSD type IV

A

Main Topics (11 decks)

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