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Article

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease - 1 Mar 2026

Shi Tie-Jun Sten, Jung-Kc Kunwar, Lyu Gong-Wei, Han Liang, Ying Ming, Thöny Beat, Martinez Aurora

Abstract excerpt

Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD...

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PMID: 41872043
DOI: 10.1002/jimd.70169
PMCID: PMC13008827

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TH

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Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.PMID 41872043Read ↗

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Active tyrosine hydroxylase mutant in genome-edited mice leads to lower enzyme levels in the striatum.Semantic proximity Read ↗

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.Semantic proximity Read ↗

The C886T Mutation in the Th Gene Reduces the Activity of Tyrosine Hydroxylase in the Mouse Brain.Semantic proximity Read ↗

Increased Activity of Tyrosine Hydroxylase Leads to Elevated Amphetamine Response and Markers of Oxidative Stress in Transgenic MiceSemantic proximity Read ↗

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