Short Chain Acyl-CoA Dehydrogenase Deficiency
SCAD deficiency

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Prevalence (%) of clinical parameters based on data from 2 references describing 41 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
Ethylmalonic aciduria circulatory 100 % 18054510 2011-12-05
Methylsuccinic aciduria circulatory 86 % 18054510 2011-12-05
Developmental delay multi 80 % 18054510 2011-11-21
Hypotonia multi 80 % 18054510 2011-11-21
Developmental delay nervous 52 % 16926354 2014-04-29
Speech delay multi 50 % 18054510 2011-11-21
Lethargy nervous 50 % 18054510 2011-12-05
Myopathy nervous 40 % 18054510 2011-11-21
Feeding difficulties multi 40 % 18054510 2011-11-21
Psychosis nervous 37 % 18054510 2011-11-21
Seizures nervous 35 % 16926354 2014-04-29
Facial weakness skeletal 30 % 18054510 2011-11-21
Pyramidal signs nervous 30 % 18054510 2014-04-29
Hypoglycemia circulatory 19 % 16926354 2014-04-29
Ataxia nervous 14 % 18054510 2011-12-05
Autism nervous 13 % 18054510 2011-11-21
Ophthalmoplegia nervous 10 % 18054510 2011-12-11
Short stature multi 10 % 18054510 2011-12-05



List of references:


Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, Stanley H Korman, Alexander Lossos, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Jerry Vockley, Gerard T Berry, Anne-Marie Lamhonwah, Dietrich Matern, Charles R Roe, Niels Gregersen,



Molecular genetics and metabolism - Feb 2008



Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
Bianca T van Maldegem, Marinus Duran, Ronald J A Wanders, Klary E Niezen-Koning, Marije Hogeveen, Lodewijk Ijlst, Hans R Waterham, Frits A Wijburg,



JAMA - Aug 2006