{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["33"],"submitter":["Hajji H"],"pubmed_abstract":["Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months of age, subacute forms with initial symptoms occurring between age 6 and 12 months, and chronic forms after 12 months of age. Without treatment, HT1 results in the accumulation of toxic metabolites leading to liver disease, proximal tubular dysfunction, and porphyria-like neurological crises. Since the early nineties, the outcome of HT1 has dramatically changed due to its treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC, nitisinone). In some countries, HT1 is included in the newborn screening program based on the a"],"journal":["Molecular genetics and metabolism reports"],"pagination":["100933"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9649935"],"repository":["biostudies-literature"],"pubmed_title":["Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening."],"pmcid":["PMC9649935"],"pubmed_authors":["Habes D","Pichard S","Arnoux JB","Sissaoui S","Girard M","Schiff M","Taibi L","Lacaille F","Imbard A","Barbier V","Spraul A","Hajji H","de Lonlay P","Debray D","Bouchereau J","Brassier A"],"additional_accession":[]},"is_claimable":false,"name":"Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.","description":"Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months of age, subacute forms with initial symptoms occurring between age 6 and 12 months, and chronic forms after 12 months of age. Without treatment, HT1 results in the accumulation of toxic metabolites leading to liver disease, proximal tubular dysfunction, and porphyria-like neurological crises. Since the early nineties, the outcome of HT1 has dramatically changed due to its treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC, nitisinone). In some countries, HT1 is included in the newborn screening program based on the a","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-05T11:36:36.037Z","creation":"2025-04-05T11:36:36.037Z"},"accession":"S-EPMC9649935","cross_references":{"pubmed":["36393896"],"doi":["10.1016/j.ymgmr.2022.100933"]}}