General Information for Families
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADDD) is a rare hereditary disease
that is caused by the lack of an enzyme required to convert fat to energy. People
with MCADDD cannot fast for very long.
Fasting is when the body begins to use its own fat to make energy for the body. Fasting begins after the body has used all the food that the person has eaten, then
begins to use the body’s own fat to make energy. When people with MCADDD fast, they
can experience a range of serious life threatening symptoms or even death. Persons
with MCADDD can not use this fat to make energy, consequently, the body begins to
fail and malfunction once the food the person has eaten runs out.
Inheritance and Frequency
The gene defect for MCADDD is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers of the defective gene have children together and pass the gene to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with MCADDD, a 50% chance the child will be a carrier of the defective
gene, and a 25% chance that the child will not be a carrier nor have the disease.
MCADDD occurs in approximately 1 in every 10,000 live births.
Signs & Symptoms
Some individuals affected by MCADDD have recurrent episodes of metabolic acidosis, and hypoglycemia, lethargy, and coma. Symptoms typically begin in infancy or early childhood. However, some affected individuals have no apparent symptoms at birth, but low blood sugar, seizures, brain damage, cardiac arrest and serious illness can occur very quickly in children who are not feeding well. As much as 25% of affected individuals die in their first crisis so it is imperative to know that a person has this disease so that crisis can be prevented. More than 50% of MCADDD individuals die from their first crisis if it occurs after the age of two. MCADDD occurs mostly among Caucasians of northern European background.
Long Term Effects
If not detected and treated appropriately, MCADDD can result in death. Untreated
MCADDD can lead to mental retardation and death. However, people with treated MCADDD
will lead normal, healthy lives. Early detection of this disorder allows crisis
to be avoided, thus treated individuals have normal life expectancy.
Treatment
Treatment of MCADDD usually consists of avoidance of fasting (by frequent meals)
and use of glucose IV required when food cannot be tolerated (such as with a virus,
cold, flu, etc.). Intake of medium- and long-chain fatty acids should be avoided.
Supplemental carnitine is recommended for some affected children.
Source: savebabies.org
What is Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADDD)
?
MCADD stands for medium-chain acylcoenzyme A dehydrogenase deficiency (medium-chain
ay-sill-co-en-zime A dee-hidrodge- in-ace deficiency). A person who has MCADD has
trouble making energy from stored fat. The body breaks down food to make energy.
Some of the energy is needed right away, and some of it is saved as fat for later
use. If a person goes more than a few hours without eating, the body starts to use
the stored fat to make energy. Enzymes (chemicals that do jobs in the body) usually
help to access the energy from fat. A person who has MCADD is missing an enzyme,
or the enzyme is not working as well as it should. Children with MCADD cannot use
the stored fat for energy. Eating often and getting care right away for any illness
can prevent most of the problems that MCADD causes.
What causes Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADDD)?
MCADD is inherited when both parents pass an abnormal MCADD gene to their child. This means both parents are carriers of MCADD. Carriers do not usually experience any health problems related to MCADD. When two carriers of MCADD have children together, there is a 1 in 4 (25%) chance for each baby to have MCADD.
How is Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADDD)
detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has MCADD.
What problems can Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADDD) cause?
MCADD is different for each child. Untreated MCADD can cause vomiting, sleepiness,
seizures, liver problems, and possibly coma or death. A child with MCADD who gets
sick should see a doctor right away. It is extremely important to follow the doctor’s instructions about caring for a child with MCADD.
What is the treatment for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADDD)?
MCADD can be treated. People with MCADD should eat frequent meals (low fat/high carbohydrate
diet) and try not to go for long periods without eating. Eating often gives the
body a ready supply of energy. Sometimes medication may also be needed to help the
body use energy. The treatment is life-long. For children who have MCADD:
- The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about MCADD.
- Treatment for MCADD is life-long, and a child with MCADD should see a doctor regularly.
Source: Minnesota Newborn Screening Program
National and State Specific Family Resources
View National and State Specific Family Resources
MCADDD Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| Total Specimens: | 182799 | 107983 | 151193 | 133680 | 74887 | 73857 | 0 | 724399 |
| 2005 | 13 | 0 | 0 | 9 | 1 | 5 | 0 | 28 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| Total Specimens: | 183727 | 107852 | 151296 | 127572 | 68895 | 71791 | 53583 | 764716 |
| 2004 | 8 | 4 | 0 | 6 | 0 | 0 | 0 | 18 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| Total Specimens: | 185033 | 109133 | 152211 | 128970 | 73362 | 71095 | 53381 | 773185 |
| 2003 | 15 | 6 | 0 | 5 | 0 | 0 | 0 | 26 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| Total Specimens: | 184033 | 109360 | 152561 | 127978 | 71634 | 67839 | 52775 | 766180 |
| 2002 | 3 | 2 | 0 | 0 | 0 | 0 | 0 | 5 |
