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Identificaton and treatment of inbornerrors of metabolism causingintractable infantile seizures

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

Selim, Layla A., Hasan, Fayza A., Husain, Hebat-Allah H.

Authors

Yousuf, Maysa Rashad

Accessioned

2017-04-26 12:27:38

Available

2017-04-26 12:27:38

type

M.D. Thesis

Abstract

Metabolic disorders constitute an important cause ofneurologic disease including infantile seizures.Objective: To identify clinical and biochemicalfeatures suggestive of an underlying metabolicetiology.Methods: 40 patients with convulsive disorderswere evaluated by selective metabolic screeningand basic metabolic investigations.Results: 19 patients had metabolic derangements.Biochemical genetic diagnosis could be formulatedin only 15 patients: UCD (5 patients), Organicacidurias (5 patients), aminoacidopathies (2patients), Disorders of gluconeogenesis (2 patients),and congenital lactic acidosis (1 patient).

Issued

1 Jan 2009

DOI

http://dx.doi.org/10.21473/iknito-space/32338

Details

Type

Thesis

Created At

28 Jan 2023