However, high phenylalanine levels will also detect DNAJC12 deficiency (DNAJC12, MIM *606060, #617384); four defects in the metabolism of the cofactor tetrahydrobiopterin due to bi-allelic variants in PTS (MIM *612719, #261640), PCBD1 (MIM *126090, #264070), QDPR (MIM *612676, #261630), and GCH1 (MIM *600225, #128230, #233910) (only autosomal recessive type) [7]; and children with liver disease. The gene discussed is DNAJC12; the disease is liver disorder.