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GTP cyclohydrolase I deficiency with hyperphenylalaninemia | RareConnect | RareConnect.io

/hyperphenylalaninemia due to tetrahydrobiopterin deficiency

/GTP cyclohydrolase I deficiency

/GTP cyclohydrolase I deficiency with hyperphenylalaninemia

GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Rare Disease

MONDO:0100186

Also Known As

GTPCH deficiencyhyperphenylalaninemia due to GTP cyclohydrolase deficiencyhyperphenylalaninemia, Bh4-deficient, type BGTP cyclohydrolase 1 deficiencyGTP cyclohydrolase I deficiencyHPABH4Bhyperphenylalaninemia, BH4-deficient, Bhyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency

Patient-Friendly Information

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:233910 ↗

Orphanet

Orphanet:2102 ↗

GARD

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