|
1
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
2
|
(HPO:0001993)
|
Ketoacidosis |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0006554)
|
Acute hepatic failure |
|
|
|
|
20 / 7739
|
|
7
|
(OMIM)
|
Acute liver failure, episodic |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Encephalopathy during episodes |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Coma during episodes (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0005974)
|
Episodic ketoacidosis |
|
|
|
|
4 / 7739
|
|
11
|
(OMIM)
|
Lactic acidosis, episodic |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Hyperglycemia, insulin-responsive, episodic |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Hyperammonemia, episodic |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Abnormal liver enzymes, episodic |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Decreased mitochondrial complex III activity |
|
|
|
|
3 / 7739
|