| Organic Aciduria |
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Information AboutOrganic Aciduria |
| CATEGORIES ABOUT ORGANIC ACIDURIA | |
| inborn errors of metabolism | |
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Most of the organic acidoses result from defective Autosomal Gene s for various Enzyme s important to intermediary Metabolism . Typically, most of the harm is caused by an impaired ability to synthesize an essential substance or by toxicity to specific organs from excessive amounts of a specific metabolite. Most are inherited as Autosomal Recessive diseases. The diagnosis is usually made by detecting an abnormal pattern of organic acids in a urine sample by Tandem Mass Spectrometry . In some conditions, the urine is always abnormal, in others the characteristic substances are only present intermittently. Many of the organic acidurias are detectable by Newborn Screening with tandem mass spectrometry. Treatments of organic acidurias vary. There are no effective treatments for some of the conditions. Treatments for some of the others may include avoidance of fasting, extra Carbohydrate s during illness, or Intravenous Fluid and Dextrose to reverse catabolism. Some can be ameliorated with extra Vitamin s or other metabolic substrates. |
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