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

Authors :: Berger SI
Miller I
Tochen L
Source :: Pediatrics [Pediatrics] 2022 Feb 01; Vol. 149 (2).
Publication Year :: 2022
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.<br />Competing Interests: CONFLICT OF INTEREST DISCLOSURES: The authors have indicated they have no conflicts of interest relevant to this article to disclose.<br /> (Copyright © 2022 by the American Academy of Pediatrics.)

Subjects :: Carbidopa therapeutic use
Child
Dopamine Agonists therapeutic use
Drug Combinations
Dystonic Disorders diagnosis
Humans
Levodopa therapeutic use
Male
Exome Sequencing methods
Dystonic Disorders genetics
Dystonic Disorders metabolism
Exome physiology
GTP Cyclohydrolase deficiency
GTP Cyclohydrolase genetics

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