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Tetrahydrobiopterin metabolic process disease

MONDO:0045014

A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.

Also known as: disorder of tetrahydrobiopterin metabolic process, disorder of tetrahydrobiopterin metabolism, tetrahydrobiopterin metabolism disease

2 clinical trials for this condition and its sub-types, 0 tagged with Tetrahydrobiopterin metabolic process disease itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of phenylalanine metabolism (61)

Sub-types of Tetrahydrobiopterin metabolic process disease

GTP cyclohydrolase I deficiency 1 trial · 2 incl. sub-types
3 sub-types
- Dystonia 5 1 trial
- GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 trials
- Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive 0 trials
Dihydropteridine reductase deficiency 1 trial
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 trial

Including sub-types (2) Tagged with Tetrahydrobiopterin metabolic process disease (0)

Trials to join now! 1 Not yet finished but already full! 1

Gene hunt aims to crack Dystonia's brain code

Knowledge-focused Recruiting now

Researchers at UT Southwestern are studying people with dystonia and healthy volunteers to understand how known gene mutations affect brain structure and function. Participants complete clinical assessments, give family and medical history, undergo MRI scans, and provide blood fo…

Sponsor: University of Texas Southwestern Medical Center • Aim: Knowledge-focused

Last updated Sep 25, 2026 00:00 UTC