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Short Chain Acyl-CoA Dehydrogenase Deficiency
SCAD deficiency

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Prevalence of clinical parameters (%)

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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,

We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:15 suggesting the presence of a founder mutation or selective advantage. Phenotype was variable with onset from birth to early childhood. Features included hypotonia (8/10), developmental delay (8/10), myopathy (4/10) with multicore changes in two and lipid storage in one, facial weakness (3/10), lethargy (5/10), feeding difficulties (4/10) and congenital abnormalities (3/7). One female with multiminicore myopathy had progressive external ophthalmoplegia, ptosis and cardiomyopathy with pneumonia and respiratory failure. Two brothers presented with psychosis, pyramidal signs, and multifocal white matter abnormalities on MRI brain suggesting additional genetic factors. Two other infants also had white matter changes. Elevated butyrylcarnitine (4/8), ethylmalonic aciduria (9/9), methylsuccinic aciduria (6/7), decreased butyrate oxidation in lymphoblasts (2/4) and decreased SCAD activity in fibroblasts or muscle (3/3) were shown. Expression studies of c.319C>T in mouse liver mitochondria showed it to be inactivating. c.625G>A is a common variant in ACADS that may confer disease susceptibility. Five healthy parents were heterozygous for c.319C>T and c.625G>A, suggesting reduced penetrance or broad clinical spectrum. We conclude that the c.319C>T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition. This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.

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,

Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency (SCADD) is an autosomal recessive, clinically heterogeneous disorder with only 22 case reports published so far. Screening for SCADD is included in expanded newborn screening programs in most US and Australian states.

JAMA - Aug 2006

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