Inborn errors of carbohydrate metabolism - PowerPoint PPT Presentation

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Inborn errors of carbohydrate metabolism

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Genetic defects, biochemical abnormalities, clinical features and management of inborn errors of carbohydrate metabolism – PowerPoint PPT presentation

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Title: Inborn errors of carbohydrate metabolism


1
Inborn Errors of Carbohydrate Metabolism
R. C. Gupta Professor and Head Department of
Biochemistry National Institute of Medical
Sciences Jaipur, India
2
E M B - R C G
3
E M B - R C G
4
EMB-RCG
5
E M B - R C G
6
EMB-RCG
7
Glycogen storage diseases
EMB-RCG
8
E M B - R C G
9
EMB-RCG
10
(No Transcript)
11
Glycogen storage disease, Type I
E M B - R C G
12
E M B - R C G
13
E M B - R C G
14

E M B - R C G
15
Glycogen storage disease, Type II
E M B - R C G
16
E M B - R C G
17
E M B - R C G
18
Glycogen storage disease, Type III
E M B - R C G
19
X
20
E M B - R C G
21
E M B - R C G
22

E M B - R C G
23
Glycogen storage disease, Type IV
E M B - R C G
24
E M B - R C G
Amylo-1,4?1,6- transglucosidase (branching
enzyme)
1,6
X
25
E M B - R C G
26
E M B - R C G
27
E M B - R C G
28
Glycogen storage disease, Type V
E M B - R C G
29
E M B - R C G
30
Glycogen storage disease, Type VI
E M B - R C G
31
E M B - R C G
32
Glycogen storage disease, Type VII
E M B - R C G
33
E M B - R C G
34
E M B - R C G
35
E M B - R C G
36
E M B - R C G
37
E M B - R C G
38
E M B - R C G
39
E M B - R C G
40
E M B - R C G
41
Glycogen storage disease, Type VIII
E M B - R C G
42
E M B - R C G
43
E M B - R C G
44
Congenital galactosaemia
E M B - R C G
45
E M B - R C G
X
46
E M B - R C G
47
E M B - R C G
48
E M B - R C G
49
Galactokinase deficiency
E M B - R C G
50
E M B - R C G
51
E M B - R C G
52
Essential fructosuria
E M B - R C G
X
53
E M B - R C G
54
Hereditary fructose intolerance
E M B - R C G
55
E M B - R C G
56
E M B - R C G
57
E M B - R C G
58
E M B - R C G
59
Essential pentosuria
E M B - R C G
60
X
61
Thank you
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