Dehydrogenase ACIL-CIL-COA deficit medium chain the risk of transmission
ACIL-COA Dehydrogenase Dehydenasi deficiency: the risk of transmission
In pregnancy, great emotions are experienced but also great concerns: future parents think first of all about the health of their child and are afraid that it can be born with a genetic disease. Thanks to a Genetic test preconception they can know if the child can take this risk even before conception.
The ACIL-COA Dehydrogenase deficit in medium chain
The Dehydrogenase ACIL-CIL-CIL-COA deficiency (MCADD) It is a recessive genetic disease that parents could unconsciously transmit to their child. In some cases, in fact, people can be carriers of a disease without specific symptoms having manifested. For this reason it is defined as recessive and, if the parents are carriers of the same changed gene, it could manifest itself in the child.
The deficit of acil-coa dehydrogenase medium chain is a Congenital defect of the oxidation of fatty acids, caused by a mutation of the gene Acadm, coding for mitochondrial mcad protein. Fatty acids are an energy source important for the body and are degraded into simpler units from which to obtain energy in case of need, such as after an intense effort or a period of fasting. The MCAD protein has the function of catabolizing fatty acids with medium length chains, i.e. between 4 and 14 carbon atoms 1.2 .
Among the manifestations of the McAd deficit
Among the manifestations of the McAd deficit there are the Metabolic crisis with rapid progression, which can become lethal if you do not intervene in a timely way. The symptoms of the disease are:
- Hypochetic hypoglycaemia;
- letargia;
- He retched;
- convulsions;
- respiratory problems;
- liver problems;
- Coma 1.2 .
Usually the debut of the disease occurs between 3 and 24 months of life, but in some cases it can remain asymptomatic up to adulthood. Symptoms can usually manifest themselves after ’ infection, prolonged fasting or surgery 1.2 .
The diagnosis is carried out by evaluating the presence of specific metabolites (AcilCarnitine) in the blood and urine and is then confirmed by the genetic analysis 2 .
The treatment of MCAD deficit
The treatment of MCAD deficit provides for the intravenous administration of dextrose. As for long -term treatment they come Frequent meals recommended, A diet rich in carbohydrates and poor in fat. Medium chain fatty acids must be avoided. The prognosis is good if you follow these indications 2 .
McAd’s deficit is not only a genetic disease but it is also a rare disease, with an estimated prevalence of 1 sick child every 14.600 children born 2 .
Future parents can know in advance if they have the risk of transmitting recessive genetic disease to their children, in order to program the right birth path. The Igea preconception test It indicates the probability of being bearers of the deficit of Acil-Coa dehydrogenase with medium chain and other pathologies, including spinal muscle atrophy and cystic fibrosis. To carry out the test, a simple blood sample is sufficient from which the DNA of the future parents will be extracted and analyzed.
For more information on the Igea pre-conception test: www.genetic source.it
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