The winner of Koh Lanta was expecting a baby who arrived on December 1st. But the sportswoman only announced it at the end of February, explaining that the Guthrie test, a newborn screening systematic rare diseases since December 2020, had revealed a rare disease in little Jade. She has a MCAD deficiency(medium-chain fatty acid acyl-COA-dehydrogenase deficiency), a genetic disease.
What is the MCAD deficit? Who does he touch?
MCAD deficiency is a genetic disease, due to the mutation of the ACADM gene, explains the Orpha.net site. It would affect approximately one to 5 babies in 100,000 births. It is characterized by the body’s difficulty in using fat as an energy source.. In general, its manifestations are not detectable until 3 to 24 months after birth, when a crisis declares, but some remain asymptomatic all their life. We are born with it and we keep it all our life: it is a chronic pathology.
This disease is defined by metabolic crises, which are acute decompensations (which make it possible to identify it). Concretely, this means that people with this deficit will decompensate “if their energy needs exceed the intake, during an episode of catabolism (intercurrent infections, vomiting, fasting, etc.). These problems arise because the fatty acids are only partially used, which leads to an energy deficit at the level of certain organs”, explains the Ministry of Health in a dedicated sheet.
What are the symptoms ?
Symptoms in the event of a crisis are: severe hypoglycaemia, arrhythmias with cardiac arrest, or an acute neurological episode (disorders of consciousness, convulsions, lethargy) with serious neurological sequelae”, adds the site of the Ministry of Health.
If crises are not controlled upstream, by avoiding the situations that produce them (fasting, too intense physical effort for example), it can result in handicaps for patients affected by MCAD deficiency. Several prolonged attacks can make it difficult to sit or stand, to move around, to communicate, learning can be slowed down… The neurological impact can hinder the patient’s autonomy. But it is a disease which is easily detected and which can be accompanied by a specialized medical team, we can live very well with.
How to detect and treat it?
To detect MCAD, all you need is a test based on a drop of blood. If detecting it is easy, there is no treatment to date. However, we can put things in place to prevent the occurrence of crises : “The principle of treatment is to avoid situations where the body requires more energy than it receives from food: very prolonged fasting or insufficient food (gastroenteritis, vomiting, etc.), fever (whatever the cause) and special situations (intense physical exertion, infections, massive ingestion of medium-chain triglycerides)”, explains the site Newborn screening.
The Orpha.net website list some eating tips to avoid seizures, such as eating eat carbohydrates before any physical effort. “With screening and early treatment, most people with the disease have no particular problem integrating socially or developing a fulfilling emotional life.” Children can for example follow a normal schooling, as long as precautions of sugar intake are taken.
In case of risk of deficiency (for example if one has gastroenteritis), it is advisable toincrease meal frequency as well as carbohydrates. And if the decompensation begins because the patient can no longer eat, or vomits too often, you have to go to the hospital to get a carbohydrate infusion.
Sources: Orpha.net, Info.gouv, Neonatal screening.
