Organic Acidemias

Organic Acidemias

Genetic Metabolic Disorders: Organic Acidemias

Essential Facts about Organic Acidemias

Organic Acidemias, which is also referred to as Organic Acidurias, are disorders that result from deficiencies of certain enzymes in carbohydrate or amino acids metabolism. In most cases, the urine of patients with mitochondrial ailments tends to have an abnormality in the organic acid levels. However, the disease is typically apparent among newborns or infants. Immediately following a period of wellness, a patient suffering from organic acidemias may experience life-threatening and intense episodes of metabolic acidosis. This condition is usually depicted with an increase in anion gap. Furthermore, such symptom may be thought of as sepsis, which may be associated with evident mortality when left undetected.

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Issues Involving the Disorder

Children who suffer from this disorder are prone to metabolic decompensations, which are present during episodes of maximum catabolism. This condition is common when a patient undergoes surgery, prolonged fasting, trauma, or intercurrent illness. Parents and caregivers should be aware of the initial symptoms of decompensation, and they should obtain proper training in providing the best emergency regimen for patients. Anesthesiologist and surgeons must also be informed of the potential risks and complications, as well as the means of preventing these concerns during surgery.

Diagnosis of the Disease

Organic Acidemias are commonly diagnosed among infants and newborns. Those who are observed to suffer from excreting too much or certain types of organic acid in their urine should be diagnosed immediately. The diagnosis is facilitate with the use of a GC-MS or Gas Chromatograph Mass Spectrometry, where the urine sample is placed in the device. Prenatal diagnosis of the disorder is also made available by observing the diagnostic compound placed in the amniotic fluid, an analysis of the enzyme activity in the chorionic villi, molecular evaluation, or a combination of these techniques. Newborn screening with the use of tandem- mass spectrometry is available in several countries such as in Australia, the United States, and numerous Asian or European nations.

In most instances, the disorders vary when it comes to the prognosis. Some patients may suffer from fatal or severe cases of the ailment, while others have manageable conditions. Life-threatening symptoms may affect several organ systems in the body, particularly the CNS or central nervous system.

Health Risks, Causes and Treatment Options

There are several factors in the diagnosis of the disorder such as developmental delay and neurological damages. The symptoms usually range from slow growth, poor feeding, vomiting, malnutrition, hypotonia, lethargy, hypoglycemia, hyperammonemia, ketoacidosis and metabolic acidosis. If the disorder remains undetected and untreated, the patient may eventually die from these severe symptoms.

Almost all cases of this disorder are caused by defects in the autosomal genes that are present in enzymes, which help in the metabolism of amino acids. Physiological and neurological damages results to an impairment in the synthesis of significant enzymes that break down amino acid groups. This condition will lead to toxicity or acidemia to particular organs in the body. Typically, the disorder is hereditary.

The management or treatment of the disorder may vary. Furthermore, there is no single effective treatment for all of the conditions, yet the severity of symptoms may be reduced through vitamin supplementation, induced anabolism, amino acid substitutions, limited high-carb or protein diet, IV fluids, and tube-feeding.

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