Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review.
Pediatr Neurol
; 146: 26-30, 2023 09.
Article
em En
| MEDLINE
| ID: mdl-37413720
ABSTRACT
Hyperhomocysteinemia is a rare neurometabolic syndrome with diverse manifestations in the pediatric age group, thereby posing a diagnostic challenge. Biochemical testing is imperative to guide plan of evaluation, which may include appropriate genetic testing, in inherited disorders. Through this case-based approach, we demonstrate the heterogeneity of clinical presentation, biochemical and genetic evaluation, and treatment strategies that may reverse this condition among children.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hiper-Homocisteinemia
/
Doenças do Sistema Nervoso
Limite:
Child
/
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article