EARLY SIGNS
At birth, you may not notice anything different about your baby, although some babies with glutaric acidemia, type 1 (GA-1) do have a larger than average head.
Babies who are identified through newborn screening can begin treatment for the condition before signs of GA-1 start.
A baby with GA-1 who has not been treated will start to show signs between 4 months and 2 years of age. These signs include:
- Poor appetite
- Sleeping longer or more often
- Tiredness
- Irritability
- Twitches
- Vomiting
- Weak muscle tone (called hypotonia)
- Fever
- Delayed growth
- Rigid muscles (known as spasticity)
- Developmental delays
- Excessive sweating
Many of these signs may occur when your baby eats foods that his or her body cannot break down. They can be triggered by long periods of time without eating, illnesses, and infections.
The severity of GA-1 varies highly for each individual. You may see many of these signs or none at all.
CAUSES
When we eat food, enzymes help break it down. Some enzymes help break down proteins into their building blocks, called amino acids. Other enzymes break down the amino acids. In glutaric acidemia, type 1 (GA-1) the enzyme “glutaryl-CoA dehydrogenase” is not working correctly.
This enzyme’s job is to break down the amino acids lysine, hydroxylysine, and tryptophan.
GA-1 occurs when your baby’s body either doesn’t make enough or makes malfunctioning glutaryl-CoA dehydrogenase enzymes. When your baby’s body cannot break down these substances, harmful substances build up in the body.
These harmful substances tend to accumulate in the basal ganglia, which are areas of the brain that control movement. This causes the neurological symptoms of GA-1.
GA-1 is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for GA-1, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with GA-1 is rare, when both parents are carriers, they can have more than one child with the condition.
TREATMENT
Dietary Treatments
It is important to start treatment as soon as glutaric acidemia, type 1 (GA-1) is diagnosed to avoid many of the signs of GA-1 mentioned in the Early Signs section. Feeding your baby often and treating illnesses and infections can also help prevent these signs.
Your baby will also need a carefully planned diet in order to avoid the proteins your baby’s body is unable to break down but to still have enough nutrients for healthy growth. A dietician or nutritionist can help you manage your child’s diet.
Supplements and Medication
Your baby’s doctor might prescribe supplements like riboflavin. Riboflavin is a natural substance that helps the body break down proteins. It can also help reduce acid levels in your baby’s body. There is always some acid in the body, but very high levels can be toxic. GA-1 causes acid levels to increase.
L-carnitine is another natural supplement that your baby’s doctor might recommend. L-carnitine helps your baby’s body get rid of harmful wastes. Your baby’s doctor will need to write prescriptions for these supplements.
EXPECTED OUTCOMES
If glutaric acidemia, type 1 (GA-1) is treated early and throughout life, your baby can have healthy growth and development.
Some children have experienced signs of GA-1 even with treatment, but these tend to decrease with age. Many of these signs are very infrequent after age 6. These children can also develop intellectual disabilities.
It is important to screen for and treat GA-1 early. If GA-1 is untreated, it can lead to seizures, coma, or permanent brain damage.