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Disorder of phenylalanine metabolism

MONDO:0017306

60 clinical trials for this condition and its sub-types, 0 tagged with Disorder of phenylalanine metabolism itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of organic acid metabolism (154) ↑ Inborn disorder of phenylalanine and tyrosine metabolism (65)

Sub-types of Disorder of phenylalanine metabolism

Phenylketonuria 57 trials · 60 incl. sub-types
5 sub-types
- Classic phenylketonuria 4 trials
- Maternal phenylketonuria 3 trials
- Mild hyperphenylalaninemia 3 trials
- Mild phenylketonuria 0 trials
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 0 trials
Tetrahydrobiopterin metabolic process disease 0 trials · 1 incl. sub-types
3 sub-types
- GTP cyclohydrolase I deficiency 1 trial Sub-types →
- Dihydropteridine reductase deficiency 1 trial
- Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 trial

Most studied deeper sub-types

Dystonia 5 (0) Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive (0) GTP cyclohydrolase I deficiency with hyperphenylalaninemia (0)

Including sub-types (60) Tagged with Disorder of phenylalanine metabolism (0)

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