Homocystinuria in Children

Homocystinuria in Children

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 mode...

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Main Authors: 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
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2018-01-01
Series:Вопросы современной педиатрии
Subjects:
hemostasis
homocystin
homocysteine
homocystinuria
magnetic resonance imaging
methionine
marfan-like syndrome
pyridoxine
lens subluxation
amino acid mixtures without methionine
cystathionine -synthase
cysteine
Online Access:https://vsp.spr-journal.ru/jour/article/view/1832
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Summary: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.
ISSN:1682-5527
1682-5535

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