Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
LCHAD deficiency

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Prevalence (%) of clinical parameters based on data from 1 references describing 104 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
Hypotonia nervous 100 % 9003853 2012-01-18
Cardiomyopathy circulatory 100 % 9003853 2012-01-18
Developmental delay multi 100 % 9003853 2012-01-18
Areflexia nervous 100 % 9003853 2012-01-18
Lactate accumulation circulatory 100 % 9003853 2012-01-18
Hyperammonemia circulatory 100 % 9003853 2012-01-18
Low plasma carnitine circulatory 100 % 9003853 2012-01-18
Increased blood transaminase circulatory 100 % 9003853 2012-01-18
Hepatomegaly digestive 92 % 9003853 2012-01-18
3-hydroxydicarboxylic aciduria circulatory 90 % 9003853 2012-01-18
Hypoglycemia multi 85 % 9003853 2012-01-18
Increased blood CK circulatory 60 % 9003853 2012-01-18
Retinitis pigmentosa nervous 55 % 9003853 2012-01-18
Failure to thrive multi 38 % 9003853 2012-01-18
Vomiting digestive 23 % 9003853 2012-01-18
Seizures nervous 23 % 9003853 2012-01-18
Neuropathy nervous 20 % 9003853 2012-01-18
Jaundice digestive 15 % 9003853 2012-01-18



List of references:


Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
T Tyni, A Palotie, L Viinikka, L Valanne, M K Salo, U von Döbeln, S Jackson, R Wanders, N Venizelos, H Pihko,



The Journal of pediatrics - Jan 1997