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Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
MONDO:0850519An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
0 clinical trials for this condition and its sub-types, 0 tagged with Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia itself.
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