Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report.

Autor:	Ilyaz M; Pediatrics, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND., Jadhav RS; Pediatrics, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND., Pande V; Pediatrics, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND., Mane S; Pediatrics, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND., Mokkarala P; Pediatrics, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Jun 23; Vol. 16 (6), pp. e62990. Date of Electronic Publication: 2024 Jun 23 (Print Publication: 2024).
DOI:	10.7759/cureus.62990
Abstrakt:	The etiology of hereditary tyrosinemia type 1 (HT-1) is the absence of fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last stage of the tyrosine breakdown process. With an autosomal recessive inheritance pattern, it is an uncommon genetic condition. We present a case of HT-1 in a three-year-old female child characterized by abdominal distension, facial edema, lower limb edema, and an enlarged liver with parenchymal disease. A liver biopsy confirmed mixed nodular cirrhosis, and a subsequent whole exome sequencing revealed autosomal recessive inheritance of tyrosinemia type 1. The patient is currently undergoing treatment with capsule nitisinone 5 mg, which inhibits the second step of tyrosine degradation to prevent tyrosinemia, along with a restricted protein diet, while awaiting liver transplantation. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Ilyaz et al.)
Databáze:	MEDLINE
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