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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

1 clinical trial 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 (60)

Sub-types of Tetrahydrobiopterin metabolic process disease

GTP cyclohydrolase I deficiency 1 trial
3 sub-types
- GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 trials
- Dystonia 5 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 (1) Tagged with Tetrahydrobiopterin metabolic process disease (0)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC