Very Long Chain Acyl-CoA Dehydrogenase Deficiency
VLCAD deficiency

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Prevalence (%) of clinical parameters based on data from 1 references describing 7 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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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