|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
Frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0001399)
|
Hepatic failure |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
7
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
8
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
10
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
11
|
(HPO:0001403)
|
Macrovesicular hepatic steatosis |
|
|
|
|
7 / 7739
|
|
12
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
15
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
1999498
|
IBIS
|
158 / 7739
|
|
16
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
17
|
(HPO:0005943)
|
Respiratory arrest |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Decreased carnitine palmitoyltransferase II (CPT2) activity |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased levels of CPT2 protein |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased palmitate oxidation |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Reduced total and free carnitine in plasma and tissue |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased long-chain acylcarnitine |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
24
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|