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Menkes disease, or curly hair disease, is a disease in which, as a result of copper deficiency, the hair is damaged with wavy hair - hence the name. However, these are not the only symptoms of this rare genetic disease. What are the causes and other symptoms of Menkes syndrome? How is the treatment of patients with this disorder going?

Menkes disease( NMK ), otherwisecurly hair disease , is a rare genetic disease . Its essence is disorders of copper metabolism in the body, which lead to a deficiency of this element.

Menkes syndromeis a gender-linked disease and mostly affects the male gender. Females carry the mutant gene.

The prevalence of Menkes' disease in Europe is estimated at 1 / 100,000-1 / 300,000 live births. Most patients die before the age of 4.

Menkes disease - causes

The cause of Menkes syndrome is a mutation in the gene that codes for the copper-transporting P-type ATPase (ATP7A). Mutations in the ATP7A gene lead to a decrease in intestinal copper absorption and intracellular transport in the central nervous system and connective tissue, and thus - to a deficiency of this element in the body.

Menkes disease - symptoms

Copper deficiency reduces the formation and function of many enzymes, which disrupts the functioning of the central nervous system. Then symptoms such as psychomotor retardation, decreased muscle tone and convulsions appear. These disorders are accompanied by abnormalities associated with connective tissue disorders, such as bladder diverticula, thinning of the bone structure of the skull and long bones, and numerous rib fractures.

Abnormal skin and hair structure (including eyebrows and eyelashes) is also characteristic of Menkes syndrome. The skin is saggy (too voluminous) and the hair becomes curly and coarse as well as broken at regular intervals. Due to the change in its structure, fractures and twists, this hair is clearly different from naturally he althy and curly hair. In addition, the hair is usually white or silver in color.

A different face structure may also attract attention: with wide cheeks, flat bridge of the nose, droopingeyelids and reduced facial expressions. Usually pale (low pigmented) skin appears too bulky at the nape of the neck, in the armpits and on the trunk.

Symptoms of Menkes' disease usually appear between 2 and 4 months of age, but in the neonatal period, symptoms characteristic of the disease can be found, such as feeding difficulties, hypothermia, breathing disorders and muscle hypotension.

Mankes disease - diagnosis and treatment

The diagnosis of Menkes' disease is based on the clinical symptoms and the evaluation of two biochemical markers - a decrease in the level of copper and ceruloplasmin in the blood serum.

Treatment consists in administering (subcutaneously or intravenously) preparations to supplement copper deficiency. According to the observations of doctors, in some cases they may lead to a slight improvement in psychomotor development and slow down the neurodegenerative process or not at all affect the course of the disease.

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