Вопросы современной педиатрии (Jan 2018)
Homocystinuria in Children
- Alexander A. Baranov,
- Leyla S. Namazova-Baranova,
- Tatyana E. Borovik,
- Tatyana V. Bushueva,
- Oksana V. Globa,
- Natalya V. Zhurkova,
- Elena A. Vishneva,
- Ekaterina Yu. Zakharova,
- Natalya G. Zvonkova,
- Ljudmila M. Kuzenkova,
- Sergey I. Kutsev,
- Svetlana V. Mikhaylova,
- Ekaterina A. Nikolaeva,
- Petr V. Novikov,
- Alexandr A. Pushkov,
- Kirill V. Savostyanov,
- Elena Yu. Voskoboeva,
- Liliia R. Selimzianova,
- Alla N. Semyachkina
Affiliations
- Alexander A. Baranov
- National Medical Research Center for Children’s Health Sechenov First Moscow State Medical University (Sechenov University)
- Leyla S. Namazova-Baranova
- National Medical Research Center for Children’s Health Pirogov Russian National Research Medical University
- Tatyana E. Borovik
- National Medical Research Center for Children’s Health Sechenov First Moscow State Medical University (Sechenov University)
- Tatyana V. Bushueva
- National Medical Research Center for Children’s Health
- Oksana V. Globa
- National Medical Research Center for Children’s Health Sechenov First Moscow State Medical University (Sechenov University)
- Natalya V. Zhurkova
- National Medical Research Center for Children’s Health
- Elena A. Vishneva
- National Medical Research Center for Children’s Health
- Ekaterina Yu. Zakharova
- Pirogov Russian National Research Medical University
- Natalya G. Zvonkova
- National Medical Research Center for Children’s Health Sechenov First Moscow State Medical University (Sechenov University)
- Ljudmila M. Kuzenkova
- National Medical Research Center for Children’s Health
- Sergey I. Kutsev
- Pirogov Russian National Research Medical University Medical Genetics Research Center
- Svetlana V. Mikhaylova
- Russian Children’s Clinical Hospital
- Ekaterina A. Nikolaeva
- Pirogov Russian National Research Medical University
- Petr V. Novikov
- Pirogov Russian National Research Medical University
- Alexandr A. Pushkov
- National Medical Research Center for Children’s Health
- Kirill V. Savostyanov
- National Medical Research Center for Children’s Health
- Elena Yu. Voskoboeva
- Medical Genetics Research Center
- Liliia R. Selimzianova
- National Medical Research Center for Children’s Health Sechenov First Moscow State Medical University (Sechenov University)
- Alla N. Semyachkina
- Sechenov First Moscow State Medical University (Sechenov University)
- DOI
- https://doi.org/10.15690/vsp.v16i6.1818
- Journal volume & issue
-
Vol. 16,
no. 6
pp. 457 – 467
Abstract
Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of sulphur-containing amino acids, primarily methionine. The article presents the etiopathogenetic, diagnostic and therapeutic aspects of this disease and covers modern opportunities of biochemical and molecular diagnostics. The approach to dietary and pharmacological correction of metabolic disorders in homocystinuria and the general strategy of patients’ management are described in detail. Important information is given for physicians of various disciplines and parents of patients.
Keywords
- hemostasis
- homocystin
- homocysteine
- homocystinuria
- magnetic resonance imaging
- methionine
- marfan-like syndrome
- pyridoxine
- lens subluxation
- amino acid mixtures without methionine
- cystathionine -synthase
- cysteine
