Biochem Stuff Flashcards
1
Q
Garrod tetrad
A
CAAP
Cystinuria
Alkaptonuria
Albinism
Pentosuria
2
Q
NHEJ
A
SCID
3
Q
NER
A
XP
Cockayne
Trichothiodystrophy
4
Q
BER
A
MUTYH
5
Q
MMR
A
Lynch
6
Q
Homologous
A
All else
AT NIJMEN BLOOM ROTHMUND THOMPSON WERNER BRCA 1&2 Fanconi anemia
7
Q
Maple syrup smell
A
MSUD
⬇️
BCKAD
8
Q
Swimming pool smell
A
Hawkinsuria
9
Q
Cat urine smell
A
3OH 3methyl glutaric aciduria
10
Q
Sweaty feet smell
A
Isovaleric
11
Q
Boiled cabbage smell
A
Hypermethionine (tyrosinemia)
12
Q
Tomcat urine
A
Multiple carboxylase def
13
Q
Mousy urine
A
PKU
14
Q
Rotting fish urine
A
Trimethylaminuria
15
Q
Malt smell
A
Oathouse syndrome