Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency-Reference-Cited by-同舟云学术

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

Published:2020-04-13 Issue:1 Volume:54 Page:9-15
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Kava Maina P.¹²³,Bryant Leah⁴,Rowe Peter¹⁵,Lewis Barry⁶,Greed Lawrence⁶,Balasubramaniam Shanti²⁷⁸⁹^ORCID

Affiliation:

1. Department of Neurology Perth Children's Hospital Perth Western Australia Australia

2. Department of Metabolic Medicine and Rheumatology Perth Children's Hospital Perth Western Australia Australia

3. School of Paediatrics and Child Health University of Western Australia Perth Western Australia Australia

4. Department of Nutrition and Dietetics Perth Children's Hospital Perth Western Australia Australia

5. West Perth Child Development Service Community Health West Perth Western Australia Australia

6. Department of Clinical Biochemistry PathWest Nedlands Western Australia Australia

7. Western Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia

8. Discipline of Genetic Medicine, Sydney Medical School University of Sydney Sydney New South Wales Australia

9. Discipline of Child & Adolescent Health, Sydney Medical School University of Sydney Sydney New South Wales Australia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12121

Reference28 articles.

1. Report of a case of intractable convulsions in an infant controlled by pyridoxine;Hunt AD;Pediatrics,1954

2. Mutations in antiquitin in individuals with pyridoxine-dependent seizures

3. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

4. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

5. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

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