Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis

BACKGROUND: Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostly in neonatal age, in early infancy or early childhood. CASE PRESENTATION: T...

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Detalles Bibliográficos
Autores principales: Motte, Jeremias, Fisse, Anna Lena, Grüter, Thomas, Schneider, Ruth, Breuer, Thomas, Lücke, Thomas, Krueger, Stefan, Nguyen, Huu Phuc, Gold, Ralf, Ayzenberg, Ilya, Ellrichmann, Gisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935479/
https://www.ncbi.nlm.nih.gov/pubmed/31884946
http://dx.doi.org/10.1186/s12883-019-1583-0

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