Cerebral atrophic hyperammonemia is a rare condition where too much ammonia builds up in the brain. This can damage brain cells and cause the brain to shrink, leading to problems with thinking, movement, and other important functions.
Cerebral atrophic hyperammonemia is a rare condition where too much ammonia builds up in the brain. This can damage brain cells and cause the brain to shrink, leading to problems with thinking, movement, and other important functions.
Can a child with Cerebroatrophic Hyperammonemia lead a normal life?
With early detection, proper treatment, and supportive learning tools, a child can lead a better life, though some challenges may persist.
What are the symptoms of Cerebroatrophic Hyperammonemia?
Symptoms include lethargy, poor growth, seizures, learning difficulties, and behavioral changes.
How can tools like Goally help children with Cerebroatrophic Hyperammonemia?
Goally offers apps that make learning and daily routines fun and manageable, supporting their development.
Cerebral atrophic hyperammonemia is a metabolic disorder characterized by elevated levels of ammonia in the blood and cerebrospinal fluid, resulting in progressive brain atrophy. This condition disrupts the urea cycle, impairing the body’s ability to eliminate nitrogenous waste products. It’s estimated to affect approximately 1 in 35,000 newborns in the United States.
Symptoms of cerebral atrophic hyperammonemia can vary in severity and may appear at different ages. Here are common signs parents should watch for:
| Early Symptoms | Later Symptoms |
|---|---|
| Poor feeding | Cognitive impairment |
| Breathing problems | Ataxia (lack of muscle control) |
| Weak muscle tone | Vision problems |
If parents notice these symptoms, they should consult a doctor promptly for proper evaluation and care.
This post was originally published on July 28, 2023. It was updated on July 18, 2024.
