Open AccessNovel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets
Author(s) -
Dogra Surabhi,
Kumar Karunesh,
Malik Rohan,
Malhotra Smita,
Sibal Anupam
Publication year - 2022
Publication title -
jpgn reports
Language(s) - English
Resource type - Journals
ISSN - 2691-171X
DOI - 10.1097/pg9.0000000000000176
Subject(s) - tyrosinemia , rickets , hypophosphatemic rickets , mutation , metabolic disease , medicine , endocrinology , genetics , biology , gene , biochemistry , tyrosine , vitamin d and neurology
Tyrosinemia is an inherited metabolic disease of fumarylacetoacetate enzyme. A male infant presented to us with clinical features of rickets, floppiness, and a deranged coagulation profile. A novel mutation causing Tyrosinemia was discovered on the basis of genetic sequencing.