Diagnostic Exam Flashcards
1
Q
Dehydrogenase cofactors (5)
A
B1 B2 B3 B5 Lipoic Acid
2
Q
Biotin as a co-factors (3)
A
Pyruvate carboxylase (Py to Oxa)
Acetyl CoA
Propionyl CoA
3
Q
Vitamin B12
A
Methylmalonyl CoA
4
Q
Ketogenic (2L)
A
Lysine
Leucine
5
Q
Both ketogenic and glucogenic (Brad PITTT)
A
Phenylalanine Isoleucine Threonine Tryptophan Tyrosine
6
Q
Which AA will yield Succinyl CoA?
A
VITM Valine Isoleucine Threonine Methionine
7
Q
PKU enzyme deficiency
A
Phenylalanine hydroxylase
BH4
8
Q
Albinism deficient enzyme
A
Tyrosinase
9
Q
Alkaptonuria deficient enzyme
A
Homogentisate oxidase
10
Q
Homocystinuria def. enzyme
A
Cystathionine synthase
11
Q
Homocystinuria clinical features HOMOCY
A
Homocysteine in urine Osteoporosis Marfanoid habitus Ocular changes (down and in VS marfan down and fans out) Cardiovas kYphosis IntellectuallY disabled
12
Q
Cherry red spot in macula (2)
A
Tay-Sachs
Niemann Pick
13
Q
Def. enzyme in Tay-Sach Dse
A
HeXosaminidase A
14
Q
Diff. bet. Tay Sach and Niemann Picks?
A
Niemann Picks - w/ hepatosplenomegaly
15
Q
Clenched hands with overlapping fingers
A
Trisomy 18 Edwards
