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Article

Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.

Movement disorders clinical practice - 1 Apr 2026

Ban Tingting, Cheng Ye, Zhang Yan, Lin Caimei, Chai Yiming, Li Wenhui, Zhang Linmei, Xing Qinghe, Wang Yi, Zhou Shuizhen

Abstract excerpt

BACKGROUND: Tyrosine hydroxylase deficiency (THD) is a rare autosomal recessive disorder caused by impaired catecholamine biosynthesis in the brain. The rarity and heterogeneous clinical spectrum of THD often lead to misdiagnosis, and evidence-based, genotype-specific levodopa dosing protocols remain unavailable. OBJECTIVE: To delineate the clinical spectrum, genetic variants, and levodopa response in a large...

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Identifiers

PMID: 41121981
DOI: 10.1002/mdc3.70371
PMCID: PMC13071317

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