UREA CYCLE DISORDER (UCD)
Urea Cycle Disorders (UCDs) is a genetic disorder caused due to gene mutation. Prevalence of Urea Cycle Disorders. The incidence of UCDs is estimated to be at least 1:35,000 births; partial defects may make the number much higher worldwide.
Urea cycle disorder prognosis: The body uses protein for growth and repair. Generally we consume much more protein than the body needs. Normally, the extra protein that the body does not need is converted in the liver to a chemical called ammonia and then, through a series of steps (known as the urea cycle) into another chemical called urea. Urea will pass through the kidneys where it is removed from the body in the urine. People with a Urea Cycle Disorder are born without or with very little of one of the six enzymes that breakdown ammonia.
In Urea Cycle Disorders, the extra protein the body does not use is converted into ammonia, but the liver cannot convert some or all the ammonia into urea for excretion in the urine. A deficiency of one of the enzymes in the urea cycle results in high levels of ammonia building up in the blood. High levels of ammonia are toxic and it can enter the brain and damage it.
Urea cycle disorder symptoms: Affected babies are normal at birth but become symptomatic after protein feedings. They refused to eat, followed by vomiting, rapid respirations, lethargy, and coma. Seizures are common.
Why Nutrition Management is important?
People with UCDs therefore need to restrict the amount of protein they eat. Restriction of dietary protein may lead to a shortage of amino acids required for growth and repair of body tissues. The restricted diet may also lead to individuals not getting enough micronutrients. It may be necessary to supplement the diet with non-essential amino acids and micronutrients to avoid complete depletion of protein stores.
The diet is specific to each infant depending on the severity of condition, age, growth rate and result of diagnostic reports. Consult a dietician to fine-tune your child’s diet over time.
Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.
A healthy Urea cycle disorder life expectancy can be foreseen with a wholesome approach with watchful diet, medical support and optimal nutrient supplement.