DEFINITION
Tyrosinemia is a situation where there is a lack of enzymes
required for the metabolism of tyrosine. This disorder is most often the liver
and kidneys.
CAUSE
Children with tirosinemia unable to metabolize the amino
acid tyrosine perfectly. The result is a product of the accumulation of this
amino acid and cause a variety of symptoms.
SYMPTOMS
There are two main types tirosinemia, namely:
- Tirosinemia Type I, is tirosinemia most often occurs in
children descendants of French-Canadian or Scandinavian. Children with this
disorder usually fall ill, sometimes at the age of one year, ie in the presence
of impaired liver function, kidney, and nerve, causing irritability, rickets,
or even liver failure and death.
- Tirosinemia Type II is more rare. Children who are exposed
to sometimes impaired intellectual and often occur wounds of the skin and eyes.
DIAGNOSIS
This disorder can be detected through blood tests in
newborns.
TREATMENT
At tirosinemia type I, restriction of tyrosine in the diet
of little help. Often these children require a liver transplant to overcome the
existing problems.
Unlike tirosinemia type I, restriction of tyrosine in the
diet can prevent disturbance to tirosinemia type II.
REFERENCE
- S, Lee M. Disorders of Amino Acid Metabolism. Merck Manual
Handbook. 2009.
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