S.Ya. VOLGINA¹, A.Yu. ASANOV²

¹Kazan State Medical University, 49 Butlerov St., Kazan, Russian Federation, 420012

²First Moscow State Medical University named after I.V. Sechenov, 8 Trubetskaya St., building 2, Moscow, Russian Federation, 119048 

Volgina S.Ya. — D. Med. Sc., Professor of the Department of Hospital Pediatrics, tel. (843) 556-74-52, e-mail: volgina_svetlana@mail.ru

Asanov A.Yu. — D. Med. Sc., Professor, Head of the Department of Medical Genetics, tel. +7-916-196-15-98, e-mail: aliy@rambler.ru

The article reviews the treatment tactics of children with galactosemia. The epidemiological data and the disease classification are presented. Special emphasis is made on the diagnostic criteria for classic galactosemia, clinical and biochemical variants of the disease. The features of neonatal screening for galactosemia in newborns are discussed. The clinical features of the disease and long-term consequencesare presented. The most frequent gene mutations in galactosemia are highlighted. We discuss the differential diagnostics, manifestations treatment, disease complications, organization and implementation of diet therapy. Special attention is paid to the preventive measures, prognosis and clinical examination of children with galactosemia.

Key words: children, galactosemia, diagnosis, treatment, clinical examination.

 

 

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