Medium Chain acyl dehydrogenase deficiency (MCADD)

Medium Chain acyl dehydrogenase deficiency (MCADD) is a rarely occurring condition that intrudes the breaking down of fat. One in every eighty people tends to have MCADD, but they do not have any symptoms. If both parents are affected by MCADD, then there are 25% chances of the child being born with it.

Symptoms of Medium Chain acyl dehydrogenase deficiency

The symptoms of MCADD are not easily identifiable except between the ages of three months and three years. Some of the symptoms are;

• Stiffness or Fits
• Vomiting and nausea
• Lethargy and laziness
• Drowsiness
• Diarrhoea
• If the condition leads to a ‘metabolic crisis’ the child may even go into coma.

Causes of Medium chain acyl dehydrogenase deficiency

When an enzyme called medium chain acyl CoA dehydrogenase either stops functioning properly or is missing, MCADD takes place. Fats usually split into fatty acids, which further split into shorter lengths, producing energy at each step. In the case of children affected by MCADD, medium length chains build up as a result of a lack of MCAD enzyme.
Diagnosis of Medium chain acyl dehydrogenase deficiency
The UK Newborn screening programme is responsible for the MCADD screening in England. The MCADD screening test is performed on the blood spot card of a newborn, and the same blood spot is used for phenylketonuria and several other tests.
Treatment of Medium Chain Acyl Dehydrogenase Deficiency
MCADD is usually treated by following a specific diet that will prevent the child from going into coma.
Healthy Child – when the child who has been afflicted by MCADD is healthy, there is no special diet to be followed, except for the fact that care should be taken in eating daily meals regularly, and to avoid long gaps between two meals.
Unhealthy child – when the child who has been afflicted by MCADD is unhealthy or ill, he/she needs to consume edible glucose supplements to balance their blood sugar levels to perfection. Regular courses of glucose drinks can be taken in emergency. Unhealthy children or children who are ill need to receive quick medical attention during an emergency. At times there may even be a need to take them to the hospital, if they are not able to eat and drink properly.
Infants and young children should eat regularly, at strict gaps of four to six hours. This regime needs to be followed for children even at night. Teenagers and adults can afford to go without consuming any food even for long gaps going up to 12 hours. A proper and balanced diet needs to be followed lifelong by the people affected by MCADD.
The Complications that may commonly arise in the case of Medium Chain Acyl dehydrogenase deficiency:
If the condition of MCADD in young children has not been treated on time, the situation may drive the child into coma, leading to severe brain damages, heavy breathing problems, harsh cardiac arrests, seizures and unfortunately even a sudden death.