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Treatment options for urea cycle disorders

Aug 15, 2017 | Failure to Diagnose

For New York patients suffering from urea cycle disorders, there are a variety of treatment options that could reduce symptoms and help them live more normal lives. The treatment options range from dietary management and drug treatment to liver transplants.

Those who suffer from urea cycle disorders are deficient in one of the six enzymes that remove ammonia from the blood stream due to genetic mutations. This can result in an elevated blood ammonia, which can present as a serious illness in those who have severe mutations. Dietary management and a supplementation of certain antioxidants, vitamins and calcium can help minimize some of the damage. There are also special amino acid formulas that are formulated specifically for those suffering from this disorder. Some children who have a lack of appetite may benefit from a gastrostomy tube or a nasogastric tube.

The FDA has also approved two forms of a drug called phenylbutyrate for treatment of urea cycle disorders. These drugs serve as "ammonia scavengers" by providing alternative pathways for the removal of ammonia from the blood. If other treatment options fail, liver transplants can reduce the effects of the disorder on the patient. There are significant risks with liver transplants, though the potential for success and benefits may outweigh them in certain circumstances.

In some cases, diagnosing urea cycle disorders can be difficult if the person has a milder mutation. Even so, a delayed diagnosis could result in serious complications for the patient. When a patient has been harmed in this manner, an attorney could examine the facts of the case and, with the assistance of medical experts, make a determination as to whether or not it constituted medical malpractice.