Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets. Issue 2 (25th May 2022)

• Record Type: Journal Article
• Authors: Dogra, Surabhi; Kumar, Karunesh; Malik, Rohan; Malhotra, Smita; Sibal, Anupam
• Is Part Of: JPGN reports. Volume 3:Issue 2(2022)
• Page Start: e176
• Publication Date: 2022-05-25
• Subjects: renal tubulopathy -- hypotonia -- deranged coagulation -- liver transplant; Pediatric gastroenterology -- Periodicals; Children -- Nutrition -- Periodicals; Children -- Nutrition; Pediatric gastroenterology; Infant Nutritional Physiological Phenomena; Child Nutritional Physiological Phenomena; Gastrointestinal Diseases; Infant; Child; Periodicals; Periodical; Case Reports; 618.9233
• DOI: 10.1097/PG9.0000000000000176
• Languages: English
• ISSNs: 2691-171X

Abstract

Abstract : 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.