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Case Reports
. 2022 Feb 25;3(2):e176.
doi: 10.1097/PG9.0000000000000176. eCollection 2022 May.

Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets

Surabhi Dogra  1 , Karunesh Kumar  1 , Rohan Malik  2   3 , Smita Malhotra  1 , Anupam Sibal  1
Affiliations
Case Reports

Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets

Surabhi Dogra et al. JPGN Rep. .

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.

Keywords: deranged coagulation; hypotonia; liver transplant; renal tubulopathy.

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Conflict of interest statement

The authors report no funding and conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
Contrast enhanced computerized tomography axial images through the abdomen revealed heterogenous liver attenuation with multiple non-enhancing hypodense nodules in both the lobes of liver.
See this image and copyright information in PMC

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