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Prevalence (%) of clinical parameters based on data from 1 references describing 7 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Hepatopathy |
digestive |
100 % |
7769092 |
2011-11-20 |
|
Coma |
nervous |
100 % |
7769092 |
2011-12-05 |
|
Cardiomyopathy |
circulatory |
57 % |
7769092 |
2011-11-20 |
|
Muscle weakness |
skeletal |
57 % |
7769092 |
2011-11-16 |
|
Hypotonia |
nervous |
43 % |
7769092 |
2011-11-20 |
|
Hypoglycemia |
multi |
43 % |
7769092 |
2011-11-20 |
|
Lactate accumulation |
circulatory |
29 % |
7769092 |
2011-11-20 |
|
Hepatomegaly |
digestive |
29 % |
7769092 |
2011-11-20 |
|
Cardiac arrhythmia |
circulatory |
14 % |
7769092 |
2011-11-20 |
|
Developmental delay |
multi |
14 % |
7769092 |
2011-11-20 |
|
Nystagmus |
nervous |
14 % |
7769092 |
2011-11-20 |
|
Myoclonus |
nervous |
14 % |
7769092 |
2011-11-20 |
|
Increased blood CK |
multi |
14 % |
7769092 |
2011-11-20 |
|
List of references:
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. T Aoyama, M Souri, S Ushikubo, T Kamijo, S Yamaguchi, R I Kelley, W J Rhead, K Uetake, K Tanaka, T Hashimoto,
The Journal of clinical investigation - Jun 1995
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