|
1
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
2
|
(HPO:0001262)
|
Somnolence |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
4
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
6
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0003150)
|
Glutaric aciduria |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0003344)
|
3-Methylglutaric aciduria |
|
|
|
|
6 / 7739
|
|
11
|
(MedDRA:10025482)
|
Malaise |
|
|
|
|
4 / 7739
|
|
12
|
(OMIM)
|
Sensitivity to dietary leucine |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0001992)
|
Organic aciduria |
|
|
|
|
28 / 7739
|
|
15
|
(OMIM)
|
3-Hydroxy-3-Methylglutaryl CoA lyase deficiency |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
High SGOT |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
3-hydroxy-3-methylglutaric aciduria |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0003535)
|
3-Methylglutaconic aciduria |
|
|
|
|
10 / 7739
|
|
19
|
(OMIM)
|
3-hydroxyisovaleric aciduria |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
3-methylglutarylcarnitinuria |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
No ketonuria |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|