Head of the Department of Psychoneurology and Epilepsy Elena S. Ilyina:

Hereditary metabolic disorders form a wide class of human hereditary disorders, which includes more than 600 different forms. Some of them are rare or even extremely rare. However, their summarized incidence is fairly high, 1:3000 to 1:5000 live births. Diseases from this group are encountered in people of various ages. But early childhood age is characterized by the most grave forms of these disorders and fast lethal outcome. In most cases, hereditary metabolic disorders have no unique features and can be taken for other diseases. Often the leading clinical symptoms are mental retardation, convulsions, serious motor impairment, hearing and vision problems; in addition to the nervous system, other organs (such as liver, kidney, lungs, or heart) are often affected.
Nervous system disorders are usually explained by a birth trauma, neural infection, or craniocerebral injury. The child can be diagnosed with cerebral palsy, epilepsy, encephalitis, cerebral defect, etc. And only when the second or even third ill child is born to the same family, the physician thinks about the possibility of a hereditary disorder.
For some disorders of this group, methods of efficient treatment have been developed by now. However, unfortunately, they are seldom diagnosed and treated in our country; prenatal diagnostic procedures are also rare. The only exception is phenylketonuria, for which a special federal program (screening of all newborns) has been adopted. If phenylketonuria is found in a certain child, a combination of measures for prevention of health problems and disabilities are taken.
The list of diseases that can be efficiently treated now includes phenylketonuria, maple syrup urine disease (leucinosis), homocystinuria, glycogenoses, lysosomal storage diseases (Gaucher's disease, Fabry's disease, mucopolysaccharidoses types I, II, and VI), biotinidase deficiency, glutaric aciduria type I, and some others. The earlier the diagnosis is known and specific therapy is started, the higher the child's chances of full recovery. Besides, if the condition is diagnosed correctly, prenatal diagnosis is possible during future pregnancies, and the family's chances to have healthy children are pretty high.
There is no universal test that would exclude all hereditary metabolic disorders. Often several expensive tests are required to learn the daignosis. Separate disorders from this group have been included in the list of diseases whose therapy is completely financed by the state. However, the physicians can only suspect the overwhelming majority of these diseases, because hospitals and parents often have no money to perform all the necessary tests. Only a few institutions in Russia can provide a complete genetic examination, including prenatal diagnostics. The Medical Genetic Center of the Russian Academy of Medical Sciences plays one of the leading roles here.
Since 2001, with support of the Regional Public Charity Foundation for Seriously ill and Abandoned Children and together with the Laboratory of Hereditary Diseases of the Medical Genetic Center, a program aimed at selective screening for hereditary metabolic disorders has been functioning at our department. This work has made it possible to confirm some rare diagnoses using not only clinical but also laboratory findings. The list of such conditions includes GM1 and GM2 gangliosidoses, sialidosis, neuronal ceroid lipofuscinosis, metachromatic leukodystrophy, globoid cell leukodystrophy, glutaric aciduria, biotinidase deficiency, some forms of mitochondrial diseases, X-linked adrenoleukodystrophy, etc. Some conditions have been diagnosed and confirmed by laboratory findings for the first time in Russia. Each year, several patients with rare hereditary pathologies receive treatment at the Department of Marrow Transplantation (Russian Children's Clinical Hospital) and sometimes abroad, thanks to the help received from your foundation.
Our experience in diagnosis of hereditary metabolic disorders indicates that examinations for such disorders should be performed for a wider group of patients with nervous system pathologies. However, we can resolve this problem only if serious financial support is provided.

Donate on-line