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

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

Abstract 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 present...

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Bibliographic Details
Main Authors: Jeremias Motte, Anna Lena Fisse, Thomas Grüter, Ruth Schneider, Thomas Breuer, Thomas Lücke, Stefan Krueger, Huu Phuc Nguyen, Ralf Gold, Ilya Ayzenberg, Gisa Ellrichmann
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Neurology
Subjects:
Hyperprolinemia type II
ALDH4A1 gene
Epilepsy
Vitamin B6 metabolism
Proline
Online Access:https://doi.org/10.1186/s12883-019-1583-0

Internet

https://doi.org/10.1186/s12883-019-1583-0

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