A urine organic acid test screens for inherited metabolic disorders, detecting abnormally high levels of metabolic products that may indicate an inborn error of metabolism. Symptoms of organic acidemias include lethargy, seizures, vomiting, and failure to thrive. Treatment includes a restricted diet, amino acid replacement, and vitamin therapy.
A urine organic acid test is done to screen people for certain inherited metabolic disorders, which are classified as organic acidemias or organic aciduria. This test looks for the presence of abnormally high levels of metabolic products, the presence of which indicates the likelihood of an inborn error of metabolism. Urine is collected and checked for the presence of abnormal levels of organic acids, typically by gas chromatography-mass spectrometry. In most cases the urine organic acid test will identify the levels of as many as 63 different substances as normal or elevated.
Organic acidemias typically manifest in infancy or early childhood, causing a wide range of symptoms. Indicators can include lethargy, seizures, vomiting, and failure to thrive. Symptoms of metabolic problems can be subtle, but they can also be the underlying cause of other significant health problems including liver failure, coma and osteoporosis. Damage to other organs is common, as is destruction of parts of the central nervous system. While it is possible to treat the symptoms, it is usually necessary to use a urine organic acid test to find out the reason for the problem and determine the most effective treatment.
Because there are more than five dozen types of organic acidemias, it is important that urine organic acid testing check for a wide range of acids that may indicate the presence of one or more of them. Three of the major types of acidemias are maple syrup urine disease, methylmalonic acidemia, and propionic acidemia, although other types may occur alone or in combination with these. One of the challenges of using the urine organic acid test is that the problem can be intermittent, with inaccurate test results; some urine samples will not have any excess organic acids, but will instead show normal levels. If acidemia is still suspected, it is best for the doctor to collect urine from different days and times and check them all.
When organic acidemia has been identified, it is essential to initiate treatment as quickly as possible. In some cases the prognosis is death and in most cases the treatment is to use effective supportive care, as in many cases nothing can be done about the condition. Treatment includes things like a restricted diet, typically low in protein and very high in carbohydrates, amino acid replacement, and vitamin therapy. Patients may also require intravenous fluids and in some cases need to be fed through a stomach tube instead of being able to eat normally.
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