GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MONDO:0100186Also known as: GTPCH deficiency, hyperphenylalaninemia due to GTP cyclohydrolase deficiency, hyperphenylalaninemia, Bh4-deficient, type B, GTP cyclohydrolase 1 deficiency, GTP cyclohydrolase I deficiency, HPABH4B, hyperphenylalaninemia, BH4-deficient, B, hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency
0 clinical trials for this condition and its sub-types.
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Disease
(717)
Metabolic disease
(241)
Hereditary disease
(188)
Inborn errors of metabolism
(47)
Human disease
(15)
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
(6)
Inborn disorder of amino acid metabolism
(6)
Autosomal recessive disease
(4)
Amino acid metabolism disease
(2)
Disease of genetic or genomic mechanism
(2)
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