transient tyrosinemia of the newborn
A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. [ https://orcid.org/0000-0001-5208-3432 Orphanet:3402 ]
Term info
- UMLS:CN204402 (MONDO:equivalentTo)
- Orphanet:3402 (MONDO:equivalentTo)
- GARD:0005388 (MONDO:equivalentTo)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4615
A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.
http://purl.obolibrary.org/obo/Orphanet_3402, http://linkedlifedata.com/resource/umls/id/CN204402
http://purl.obolibrary.org/obo/MONDO_0017307
transient neonatal tyrosinemia, transient tyrosinemia of the neonate
tyrosine-oxidase temporary deficiency
MONDO:0018083