| Metadata | |
|---|---|
| ID | DOID:0081132 |
| Name | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia |
| Definition | An 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. https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/, https://pubmed.ncbi.nlm.nih.gov/11388593/ |
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