Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry.

ABSTRACT:

Importance

Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling.

Objective

To examine the most common features of G1D.

Design, setting, and participants

In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016. The study used several statistical methods tailored to address the age at onset of various forms of G1D, associated manifestations, natural history, treatment efficacy, and diagnostic pr

SUBMITTER: Hao J 

PROVIDER: S-EPMC5822202 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature