Treatment for Urea Cycle Disorder

Liver Enzyme Deficiencies Lead to High Levels of Ammonia in the Blood

Urea cycle disorders are composed of a group of diseases having specific liver enzyme deficiencies. They are inherited errors of metabolism in which the body lacks or is deficient in the enzymes necessary to break down protein into urea and excrete it in the urine.

When a necessary enzyme is missing or deficient in the urea cycle, protein cannot be broken down and instead is degraded to ammonia (NH3+). High levels of ammonia in the blood are toxic to brain cells and can lead to cell damage or cell death. These disorders vary in severity and may appear from newborn infants to adults. In infants, however, some cases are so severe that they become toxic within 24 hours of birth.

Typical signs of the disease are decreased mental awareness, vomiting, combativeness, slurred speech, unstable gait and unconsciousness. The diagnosis of urea cycle disorders requires special laboratory tests.

Detoxifying Ammonia

Sodium Benzoate helps to detoxify ammonia. It is a metabolically active compound that can serve as an alternative to urea for the excretion of waste nitrogen and thus ammonia. It is metabolized in the liver and kidneys.

In the most acute cases, sodium benzoate can only be administered intravenously and often must be combined with hemodialysis. When applied in this manner, it can cause acute nausea and vomiting. Once the patient is stabilized, oral delivery can be preferable. But the chemical has a strong astringent (bitter) taste.

MYERS Medical Provides Flavoring and Treatments for Other Enzyme Disorders

We compound sodium benzoate in oral liquid form with flavoring to mask its bitter taste. To provide patients with variety, we can prepare a number of pleasant-tasting options.

We also compound other liquid medications depending upon the exact type of enzyme disorder a child is suffering. Among the key ingredients we use are the amino acids l-arginine and l-citrulline, which increase the rate of urea production, and methionine, and l-valine which are used to treat children with various other genetic metabolic disorders. In addition, we have treatments that include other nutritional medications, including Hydroxocobalamin, Concentrated Vitamin B, Biotin and Coenzyme Q-10 with Lipoic Acid and Vitamin E.

Some children need one or more of these to detoxify ammonia. For others certain chemicals have to be avoided to keep from making the problems worse. We can prepare the individual solutions needed.