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Which rare disease can cause fatal hyperammonemia and heart problems in the newborn period? Find out the reasons behind this!
In the newborn period, certain rare diseases can cause fatal health problems, one of which is propionic acidemia. This is an auto-recessively inherited metabolic disorder that usually manifests itself soon after birth with severe symptoms.
Propionic acidemia can cause severe hyperammonemia, heart disease, and other life-threatening health problems.
Symptoms and signs
Symptoms of propionic acidemia can become very apparent in newborns. Common symptoms include:
- Difficulty eating
- Vomiting
- Drowsiness
- Muscle weakness (low muscle tone)
- Epilepsy
- Dehydration
Without appropriate treatment, these symptoms can quickly lead to life-threatening conditions, including an increased risk of brain damage, cardiomyopathy, and infection.
Long-term complications include intellectual disability, autism, chronic kidney disease, and cardiomyopathy.
Pathophysiology
In healthy individuals, pyruvyl-CoA carboxylase (Propionyl-CoA Carboxylase) can convert pyruvyl-CoA into methylpyruvy-CoA, which is an important step in the process of converting certain amino acids and fats into energy. step. However, this enzyme does not function properly in people with propionic acidemia.
This will lead to the accumulation of certain essential amino acids such as valine, methionine, isoleucine and threonine, which will in turn cause the accumulation of propionic acid, which will have a negative impact on the body's health. Damage to multiple organs.
Diagnosis
The diagnosis of propionic acidemia mainly relies on the following biochemical indicators:
- The concentration of metabolites of propionic acid in blood and urine is increased
- Biotinidase activity is normal
- Methylpropionic acid levels are normal
Management and Treatment
Early initiation of a low-protein diet is an important step in managing propionic acidemia. Proper diet design includes a protein mixture that removes methionine, threonine, valine, and isoleucine.
In addition, patients may require L-carnitine supplementation and monthly antibiotic treatments to remove propionic acid precursors from the intestines. In addition, it is crucial to maintain strict dietary management:
- Normal daily diet: low protein content
- Semi-emergency diet: half protein requirement
- Emergency diet: no protein
Under special circumstances, liver transplantation is gaining more and more attention and can improve patients' quality of life.
Epidemiology
According to statistics, propionic acidemia occurs in about 1 in every 35,000 births in the United States, and the incidence of the disease is even higher in Saudi Arabia, at about 1 in 3,000 births. In addition, it is also common among communities with high consanguinity such as Amish and Mennonite.
Historical background
The history of propionic acidemia can be traced back to 1957, when the appearance of a little boy attracted the attention of the medical community. After dietary testing, doctors found that symptoms worsened when given certain amino acids. Through further research, scientists helped determine that the disease is a recessive genetic disorder caused by an enzyme deficiency.
Today's diagnostic and management methods have greatly improved the prognosis of this disease, but research continues to seek additional treatment options.
Propionic acidemia is a horrific genetic disease with potential effects that can persist throughout a patient's life. In this context, how important is it for the general public to know and understand these rare diseases?
