About Acute neonatal citrullinemia type I
What is Acute neonatal citrullinemia type I?
Acute neonatal citrullinemia type I is a rare inherited metabolic disorder that affects newborns. It is caused by a deficiency of the enzyme argininosuccinate synthetase, which is responsible for the breakdown of the amino acid citrulline. Symptoms of this disorder include vomiting, poor feeding, lethargy, and seizures. If left untreated, it can lead to coma and death. Treatment typically involves a low-protein diet and supplementation with arginine and citrulline.
What are the symptoms of Acute neonatal citrullinemia type I?
The symptoms of Acute neonatal citrullinemia type I can vary from person to person, but may include:
- Poor feeding
- Vomiting
- Lethargy
- Seizures
- Hypoglycemia
- Hyperammonemia
- Elevated levels of citrulline in the blood
- Elevated levels of ammonia in the blood
- Elevated levels of glutamine in the blood
- Elevated levels of alanine in the blood
- Elevated levels of arginine in the blood
- Elevated levels of ornithine in the blood
- Elevated levels of orotic acid in the urine
- Abnormal liver function tests
- Abnormal kidney function tests
- Abnormal brain imaging results
- Abnormal electroencephalogram (EEG)
What are the causes of Acute neonatal citrullinemia type I?
Acute neonatal citrullinemia type I is caused by a genetic mutation in the ASS1 gene, which is responsible for the production of the enzyme argininosuccinate synthetase. This enzyme is necessary for the conversion of citrulline to arginine, an essential amino acid. Without this enzyme, citrulline builds up in the body, leading to the symptoms of acute neonatal citrullinemia type I.
What are the treatments for Acute neonatal citrullinemia type I?
1. Dietary therapy: A low-protein, low-ammonia diet is recommended to reduce the amount of ammonia produced by the body.
2. Medications: Medications such as sodium benzoate, arginine, and ornithine can be used to reduce the levels of ammonia in the body.
3. Liver transplant: In some cases, a liver transplant may be necessary to treat the condition.
4. Gene therapy: Gene therapy is being studied as a potential treatment for Acute neonatal citrullinemia type I.
What are the risk factors for Acute neonatal citrullinemia type I?
1. Genetic predisposition: Acute neonatal citrullinemia type I is caused by a genetic mutation in the ASS1 gene, which is inherited in an autosomal recessive pattern.
2. Ethnicity: Acute neonatal citrullinemia type I is more common in certain ethnic groups, such as Japanese, Korean, and Chinese.
3. Family history: Having a family history of Acute neonatal citrullinemia type I increases the risk of developing the condition.
4. Gender: Acute neonatal citrullinemia type I is more common in males than females.
Is there a cure/medications for Acute neonatal citrullinemia type I?
Yes, there is a cure for Acute neonatal citrullinemia type I. Treatment typically involves a low-protein diet and the use of medications such as sodium benzoate, arginine, and citrulline to reduce the levels of ammonia in the blood. In some cases, a liver transplant may be necessary.