What Is Organic Aciduria?

Organic aciduria is an inherited metabolic disease that often occurs in babies. However, sometimes it can manifest later. Its early diagnosis and attention are of the utmost importance since, due to the symptoms it causes, it can cause the death of the patient.

Due to the scarcity of studies on organic aciduria, it is believed that many neonatal deaths are caused by sepsis, acquired immunodeficiencies or sudden death, as indicated by the Biochemical Diagnosis of Organic Aciduria in Cuba .

If organic aciduria is diagnosed correctly, the available treatment can be applied that will prevent both fatal outcomes and severe disability.

Symptoms of organic aciduria

Organic aciduria has a series of symptoms that are a clear warning sign that something is not right. Some of them are very striking and great care must be taken not to confuse them with another series of common pathologies or diseases. Let’s see some of them:

• Refusal to feed : the baby vomits after each meal that also causes severe dehydration. If these symptoms are not treated quickly, they can lead to anemia.
• Consciousness compromise : this symptom occurs progressively and is detected because the abilities to respond to certain stimuli are diminished. In the most severe cases it can lead to coma.
• Blood disorders : the number of white blood cells in the blood may decrease (leukopenia), there may be an excess of lactates (hyperlactatemia), ammonia (hyperammonemia) or ketone bodies (ketoacidosis), as well as low levels of glucose and blood cells red, white, and platelets in the blood (pancytopenia).

The presence of pancytopenia is what sometimes confuses physicians and makes them think that what the newborn patient suffers from is sepsis. This misdiagnosis could put the baby’s life at risk.

How to recognize organic aciduria?

To determine that, instead of sepsis or any other disease, what the neonate is suffering is organic aciduria, it is necessary to perform a mass spectrometry by gas chromatography or MS-MS in tandem, as indicated.  Ogier De Baulny and   Saudubray .

This test identifies organic compounds in plasma and urine. But, the most important thing is that it will provide highly relevant information that will make the diagnosis reliable, since it will detect whether or not acylcarnitine is present.

Acylcarnitine is an inherited disorder that has many of the symptoms that we have talked about. Its presence in the test performed will allow a clear diagnosis and completely rule out the idea that it may be a sepsis.

Treatment available

Organic aciduria currently has a treatment that prevents the disease from progressing further, which prevents possible disabilities that can result if it is not diagnosed early enough. The treatment includes the following points:

• Elimination or restriction of amino acids : the amino acids known as methionine, threonine, valine and isoleucine are not toxic in healthy patients. However, in high doses they are, so the treatment for organic aciduria consists in eliminating or reducing them.
• Start a special diet : the doctor together with the nutritionist will develop a suitable diet for the treatment to be as effective as possible. To do this, all types of proteins will be eliminated at the same time that vitamin B12, biotin and l-carnitine will be introduced in the diet.

• Peritoneal dialysis : the Biochemical Diagnosis of Organic Aciduria in Cuba recommends peritoneal dialysis at times when the newborn is in the acute phase of the disease.

According to a neonatal screening program, the incidence of aciduria is 1 in 15,000 babies. A fairly low figure that makes it clear that this disease is very rare and can only appear in exceptional cases.

Although organic aciduria is not very frequent, it is important to know about it, as well as other types of rare diseases, to know how to detect them early and avoid major problems. In many cases, the consequence can be death.