Paula and Bobby
Parents of Lillie
Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD
What is Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD?
Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD is a rare disease. It is also known as Acads Deficiency Lipid-storage Myopathy Secondary To Short-chain Acyl-coa Dehydrogenase Deficiency Scad Deficiency Scadh Deficiency.
Short Chain Acyl-CoA Dehydrogenase Deficiency is a disorder of fatty-acid oxidation with significant clinical variability. Mild symptoms include muscle weakness and exercise intolerance, while more severe symptoms include hypotonia, failure to thrive, sutural cataracts, cardiomyopathy, and progressive external ophthalmoplegia.
There have been only a few reports to date of short-chain deficiency. One (Turnbull et al., 1984) concerns an adult who was well until the age of 45 and then developed exercise intolerance and proximal weakness, and the others (Coats et al., 1986, Sewell et al., 1993) were of infants hypotonic from birth with vomiting and failure to thrive. There have also been twins with this disorder with minimal or no clinical signs (Ribes et al.,1998). The diagnosis might be suggested by finding excess fat in muscle and the characteristic excretion of dicarboxylic acids in the urine, but all do not have these findings. In the Sewell et al., (1993) report, ethylmalonic acid and methyl succinate were found on the organic acid urinary screen and the diagnosis was confirmed on finding a deficiency of short-chain acyl CoA in cultured fibroblasts.
The case reported by Vergani et al., (1996) showed dramatic improvement on riboflavin.
A case was reported by Tein et al., (1999). The infant at 3 months was floppy and an EMG was suggestive of muscle disease. A muscle biopsy showed multi/mini cores. At 5 years she had a myopathic face, ptosis and a progressive external ophthalmoplegia. At 7 years she developed sutural cataracts. Lactates and CPK were normal. An ECG showed bi-atrial hypertrophy. Ethylmalonic and methylsuccinic acids were grossly elevated on urine organic acid screening.
* This information is courtesy of the L M D.
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What gene changes cause Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 201470 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ACADS - 12q24.31
What are the main symptoms of Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD?
The typical symptoms of the syndrome are:
Cardiomyopathy, Abnormality of the cerebral white matter, Lethargy, Muscular hypotonia, Myopathy, Seizure, Psychosis, Autosomal recessive inheritance, Failure to thrive, External ophthalmoplegia, Facial palsy, Feeding difficulties in infancy, Ethylmalonic aciduria, Flexion contracture, Scoliosis, Neonatal onset, Episodic metabolic acidosis, Global developmental delay, Delayed speech and language development
How does someone get tested for Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD?
The initial testing for Acyl-CoA Dehydrogenase, Short-Chain, Deficiency of; ACADSD can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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