Paula and Bobby
Parents of Lillie
Acyl-Coa Dehydrogenase 9 Deficiency
What is Acyl-Coa Dehydrogenase 9 Deficiency?
Acyl-Coa Dehydrogenase 9 Deficiency is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Members in three families, including sibs had evidence of ACAD9 deficiency (He et al., 2007). In 1 there was a Reye-like illnessafter the ingestion of aspirin - he had cerebral oedema and died, the the 2nd there was acute liver failure and in the sibs there was predominantly a cardiomyopathy. Mild gait ataxia and muscle weakness were part of the picture
* This information is courtesy of the L M D.
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What gene changes cause Acyl-Coa Dehydrogenase 9 Deficiency?
The syndrome is inherited in the following inheritance pattern/s:
Mitochondrial - Mitochondrial inheritance is passed solely through the Mother. It involves the genes found in our mitochondrial DNA. Mitochondria are passed through the egg cells.
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acyl-Coa Dehydrogenase 9 Deficiency?
The typical symptoms of the syndrome are:
How does someone get tested for Acyl-Coa Dehydrogenase 9 Deficiency?
The initial testing for Acyl-Coa Dehydrogenase 9 Deficiency 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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