Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome

Authors

Seth I. Berger, Children's National Rare Disease Institute and Division of Genetics and Metabolism.
Ilana Miller, Children's National Rare Disease Institute and Division of Genetics and Metabolism.
Laura Tochen, Pediatrics, School of Medicine and Health Sciences, George Washington University.

Document Type

Journal Article

Publication Date

2-1-2022

Journal

Pediatrics

Volume

149

Issue

2

DOI

10.1542/peds.2021-052886

Abstract

An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia.

APA Citation

Berger, Seth I.; Miller, Ilana; and Tochen, Laura, "Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome" (2022). GW Authored Works. Paper 388.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/388

Department

Genomics and Precision Medicine