Some of the conditions have better treatments available at this time than others. The outcome of treatment can range from good to poor and depends partly on how much harm occurred before treatment took place. MCAD is now included in routine mandated screening. Body proteins are made up of building blocks called amino acids. Some of these amino acids are involved in a variety of the disorders included in this screening.
Treatment is with a special diet and special medications.
Some of the other disorders are caused by buildup in the body of organic acids which can be toxic. Vomiting, with loss of body fluids and salts, can lead to coma and death if untreated. Symptoms may begin as early as a few days after birth or not until months later. Treatment usually consists of a special diet and special medications. We really do not know how many Massachusetts babies have these 19 disorders.