What is MCADD and how to identify if your Baby is affected

MCADD or Medium Chain Acyl-CoA Dehydrogenase Deficiency, a rare hereditary disease is caused by a faulty gene that is unknowingly passed on through generations, with a child with a defective gene being born of parents that are carriers of this gene. Caused by the defective working or absence of the enzyme medium chain acyl-CoA dehydrogenase, MCADD causes failure to break down certain fats in the food we eat into energy.

Our bodies rely on fats when we do not eat for a stretch of time or are sleeping, with the absence or inefficient working of the enzyme causing  failure to use certain type of fats, with the body instead using glucose for energy. This leads to low blood sugar or hypoglycemia and build-up of harmful substances in the blood.    

Proving to be a fatal disease, 1 out of 15,000 babies in the United States is born with MCADD, with this deficiency being more common in white people of Northern Europe and United States. Also 1 out of 70 Caucasians are carrier of this deficiency. It is best to note that if both parents carry the faulty gene, a baby has a 50 per cent chance of being a carrier, a 25 per cent chance of having the disease, and a 25 per cent chance of having neither.

All newborn babies are screened for  MCADD through a heel prick test in the first 2 weeks of life; a few drops of blood are taken from the baby’s heel and sent to the lab for testing. However soon the blood samples would be tested for this deficiency and there would be no need for the heel prick test.

It is significant to know that every 1 out of 100 deaths from Sudden Infant Death Syndrome (SIDS) is caused by undiagnosed MCADD. The first effects of MCADD in children is shown when they are 3 months to 2 years. The child may be irritable, have loss of appetite, changes in behavior, and extreme sleepiness that is sometimes accompanied by diarrhea and vomiting. If not treated in time it could lead to low blood sugar, breathing problems, seizures, coma and even death.

Most children with MCADD are healthy except when they have a metabolic crisis; 25% of the sufferers die after the first crisis, with it rising to 50% after 2 years of age with 1 out of 3 surviving sufferers sustaining significant neurological damage. Repeated crisis could lead to permanent brain damage that result in learning difficulties.

MCADD can however be treated: 

Babies and young children should have something every 4-6 hours and teenagers and adults should not go without food over 12  hours; it is also advisable to be regular in eating and eat a starchy snack at bedtime in addition to waking for snacks during the night.

Children with the advice of dieticians should be given a high carbohydrate diet that provides beneficial types of energy that can be used by the body eliminating the need for fats to be broken down.  

At the first sign of illness like cold, flu or stomach bug that affect appetite, medical treatment should be sought and high glucose drinks should be given to prevent a drop in blood sugar.

Some children with the advice of doctors can be helped by taking L-carnitine, a safe and natural substance that helps body cells to make energy and get rid of harmful wastes.

Last but most importantly, prompt and careful treatment of children with MCADD helps them live healthy lives with typical growth and development without  life-long learning disabilities, spasticity, chronic muscle weakness or other effects.

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