Alkaptonuria in children— causes, symptoms and treatments

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Alkaptonuria in children – the disease is quite rare. It develops at an early age and accompanies the person throughout his life. With time the skin forms a pigmentation expressed in the zygomatic region of the face, on the genitals, as well as in axillary hollows. During the development of the disease patients suffer from weakness, the development of asticou and arthritis. Upon standing in air, the urine of a sick child darkens, there is often a hoarseness of the voice.

Causes of alkaptonuria in children Alkaptonuria – a pathology characterized by heredity. The causes of this disease are mutations in genes that are responsible for the restoration of a consequence oxidase that promotes the breakdown of phenylalanine amino acids and tyrosine (play an important role in the production of proteins). Thus, mutations in the gene disrupt this process and consequence of acid formed due to the breakdown of tyrosine and phenylalanine accumulates in the human body. Over time the excess in the joints a consequence, acid may lead to arthritis. In addition, this substance is excreted in urine, therefore the urine takes on a darker hue in the air.

Diagnosis: alkaptonuria Alkaptonuria, the child can be established almost immediately after the baby is born – diapers, which hit the urine is not washed out due to the large amount a consequence, acid. In itself, alkaptonuria – a disease that is quite rare. The boys more susceptible than girls: the ratio is approximately one to two.

Symptoms of alkaptonuria occurrence in children of This disease in children is characterized by the manifestation of a single symptom – urine output with dark color. In alkaptonuria, there is no effect on the psychophysical development of the baby. Throughout life the course of this disease is favourable. Often, in some children affected by the disease, after four years, there has been postponement a consequence of acid in the kidney, the cartilage, thyroid gland, adrenal gland and the sclera.

Treatment alkaptonuria in children Treatment alkaptonuria in children boils down to a single "medical preparation" — ascorbic acid, which is administered in doses equal to 5-6 grams daily.

 

Source: globalscience.ru