Biochem Stuff Flashcards

1
Q

Garrod tetrad

A

CAAP

Cystinuria
Alkaptonuria
Albinism
Pentosuria

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2
Q

NHEJ

A

SCID

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3
Q

NER

A

XP
Cockayne
Trichothiodystrophy

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4
Q

BER

A

MUTYH

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5
Q

MMR

A

Lynch

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6
Q

Homologous

A

All else

AT 
NIJMEN 
BLOOM 
ROTHMUND THOMPSON 
WERNER 
BRCA 1&2 
Fanconi anemia
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7
Q

Maple syrup smell

A

MSUD
⬇️
BCKAD

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8
Q

Swimming pool smell

A

Hawkinsuria

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9
Q

Cat urine smell

A

3OH 3methyl glutaric aciduria

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10
Q

Sweaty feet smell

A

Isovaleric

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11
Q

Boiled cabbage smell

A

Hypermethionine (tyrosinemia)

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12
Q

Tomcat urine

A

Multiple carboxylase def

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13
Q

Mousy urine

A

PKU

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14
Q

Rotting fish urine

A

Trimethylaminuria

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15
Q

Malt smell

A

Oathouse syndrome

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