GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MONDO:0100186Mondo
Findings
No curated finding names GTP cyclohydrolase I deficiency with hyperphenylalaninemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Decreased urinary biopterin levelHPOHP:0040417
- 1 of 1 reported patient
- Decreased urinary neopterin levelHPOHP:0040420
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HyperphenylalaninemiaHPOHP:0004923
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased CSF phenylalanine concentrationHPOHP:0500223
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
Show the remaining 1
- TremorHPOHP:0001337
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GCH1HGNC:4193
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: GTP cyclohydrolase I deficiency with hyperphenylalaninemia
- Also called
- GTPCH deficiencyhyperphenylalaninemia due to GTP cyclohydrolase deficiencyhyperphenylalaninemia, Bh4-deficient, type B