Tyrosinemia
Tyrosinemia is a pathology in which the liver enzyme p-hydroxyphenylpyruvic oxidase, which converts the amino acid tyrosine, shows insufficient activity. This disease is characterized by selective damage to the pancreas, kidneys, liver, etc. As a rule, this disease occurs in newborns. Parents may not even guess that their child has tyrosinemia. Timely diagnosis and effective treatment make it possible to give a more than favorable prognosis for the newborn.
CAUSES OF TYROSINEMIA
Tyrosinemia has one main cause – heredity. No other mechanisms of occurrence of this pathology have been identified at the moment. The disease is transmitted by an autosomal recessive type.
TYPES OF TYROSINEMIA
Tyrosinemia is divided into two forms in modern medicine, in accordance with certain clinical manifestations of the disease.
Acute form, diagnosed in infants from the first week of life. In severe tyrosinemia, a fatal outcome is possible, due to the danger of developing cirrhosis of the liver.
The form, which has not so serious consequences, is diagnosed in children starting from the second semester.
SYMPTOMS OF TYROSINEMIA
Tyrosinemia is characterized by the following symptoms:
Progressive pigmentation of the skin.
Signs of liver cirrhosis.
Rickets, which is not corrected by treatment with vitamin D.
The following symptoms are characteristic of newborns:
Lag in weight gain.
The delay in the child’s development at such important stages as the ability to hold his head and sit down on his own.
A significant increase in the abdomen, provoked by the large size of the spleen.
Incessant movements of the eyeballs.
Unexpected twitches.
Increased tearfulness.
Edema.
Frequent sweating of the back of the head.
Diarrhea and vomiting.
DIAGNOSIS OF TYROSINEMIA
Tyrosinemia is diagnosed by an endocrinologist, based on the general clinical picture of the child’s development and the conducted EEG. Also, children are required to undergo a full examination by a pediatrician.
TREATMENT OF TYROSINEMIA
Tyrosinemia has a fundamental direction of treatment – it is diet therapy. The child’s diet is compiled in such a way that the dose of valine is no more than 100 mg, per kilogram of the child. With proper complex treatment and compliance with the diet, vomiting and diarrhea pass quite quickly in children, and weight gain is approaching the norm.
With the first type of TE, a low-protein diet is recommended that does not contain tyrosine, methionine, phenylalanine, which shows good results with the parallel use of a 4-hydroxyphenylpyruvate dioxygenase inhibitor prescribed against dietary restrictions. In the future, a liver transplant from a donor is possible.
With the second type of TE, it is necessary to exclude foods that contain tyrosine from the diet.
With the third type of TE, a diet is prescribed, from which tyrosine and phenylalanine are excluded, with the additional appointment of vitamin C. Treatment of the neurological manifestation of the disease is prescribed, depending on its symptoms.
THE DANGER OF TYROSINEMIA
In the absence of timely and comprehensive treatment of this disease, a child may have a fatal outcome, during the first six months of life, due to the development of liver failure. To start treatment on time, timely and accurate diagnosis of the disease is required, since in its symptoms it has similarities with some other pathologies.
