has material basis in germline mutation in PAH disorder of phenylalanine metabolism phenylalanine hydroxylase deficiency https://github.com/monarch-initiative/mondo/issues/10251 Orphanet:708881 PAH deficiency A disorder of phenylalanine metabolism caused by biallelic variants in the PAH gene, encompassing the full spectrum of phenylalanine hydroxylase deficiency from mild hyperphenylalaninemia, which requires no treatment, to phenylketonuria, in which untreated blood phenylalanine concentrations warrant phenylalanine-restricted dietary treatment. MONDO:1060259