What are organic acid metabolism disorders?
Organic acid metabolism disorders are a group of rare birth defects. They affect your ability to break down food into energy. Another name for them is organic acidemia metabolic disorders. There are numerous types of the disorder. They occur when a newborn lacks a certain protein or has a protein that doesn’t work correctly.
Symptoms of organic acid metabolism disorders
Symptoms may begin right after birth or a few days later. Some babies never have symptoms or don’t have any until they are older. Each type of disorder has different symptoms based on the protein it affects. Common signs of a disorder are:
- Dehydration (Dry mouth and lips, rapid heartbeat, or confusion)
- Drowsiness or lack of energy
- Fussiness
- Trouble eating and gaining weight
- Vomiting or diarrhea
- Low blood sugar
- Low body temperature
- High levels of acid in body fluids
- Skin rash
- Infection
- Weakened muscles, spasms, or seizures
What causes organic acid metabolism disorders?
These types of disorders are genetic. Parents may carry the recessive gene even if it’s not active. There is a chance parents can pass it to their children.
How are organic acid metabolism disorders diagnosed?
A doctor often diagnoses the disorders during your baby’s routine newborn screening test. This is a heel prick test to collect a blood sample. All babies have the test within 24 to 48 hours of birth before leaving the hospital. The screening checks for a range of birth defects and rare conditions. Ask your doctor or hospital which metabolic disorders they screen for.
If your baby tests positive for a disorder, the doctor will perform other tests to confirm the diagnosis.
Can organic acid metabolism disorders be prevented or avoided?
Since the disorders are caused by genetics, you cannot prevent them. If you know you have one of the disorders, there is a risk of passing it to your offspring. You might not know you carry the gene, if it is recessive. The only way to find out is to get genetic testing done before or during pregnancy.
Organic acid metabolism disorders treatment
Early diagnosis is key to treatment. Newborns who have a disorder are at risk of death if it is not detected. Treatment should begin right away with nutrition changes. You will have to switch your baby to a low-protein diet. This helps manage acid levels and the breakdown of food. Some disorders require taking dietary supplements.
Living with organic acid metabolism disorders
There is no cure for the rare disorders. If you have a disorder, you will need to maintain the specialized diet for life. Your child’s doctor, as well as a geneticist and nutritionist, can help monitor the condition.
The risk of death decreases as your baby gets older. However, severe problems can occur if they don’t get treatment, lapse on the diet, or miss meals. The buildup of protein acids in their body becomes toxic. This is known as metabolic acidosis. Possible health problems include:
- Malfunction of kidney, liver, or pancreas
- Heart defects
- Vision loss
- Mental and learning delays or handicaps
- Brain damage
- Seizures
- Coma
- Stroke
- Heart failure
Questions to ask your doctor
- What type of diet does my child need to follow?
- How often do we need follow-up tests?
- Are there any limits to what my child can do?
- Are there related health conditions that my child may develop?
Resources
Copyright © American Academy of Family Physicians
This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.
