Homocystinuria: Literature Review and Clinical Case Description

Homocystinuria: Literature Review and Clinical Case Description

Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit. That in turn causes elevated concentration of homocystein and its metabolites in blood and urine. The main clinical manifest...

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Bibliographic Details
Main Authors: Natalia V. Buchinskaya, Eugenia A. Isupova, Mikhail M. Kostik
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2019-09-01
Series:Voprosy Sovremennoj Pediatrii
Subjects:
children
homocystinuria
cystathionine > synthetase
osteoporosis
thrombembolia
ectopia lentis
genetic variants
diagnostics
treatment
Online Access:https://vsp.spr-journal.ru/jour/article/view/2138

Internet

https://vsp.spr-journal.ru/jour/article/view/2138

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