E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
03 / 01 / 2022

 


Tyrosinemia type I: an unusual case presentation

Marwa ALMahroos, Mohammed AlMannai.


Abstract
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction. If left untreated it may lead to Fanconi syndrome and neurological crisis (porphyria-like crisis). Nitisinone is the recommended therapy for HT1 in combination with tyrosine and phenylalanine restricted diet.
Case Presentation: In this report, we present 3 years and 8-months-old boy who was referred to the Metabolic Clinic after his cousin was diagnosed with HT1. His history was significant for pleural effusion at 8 months of age which contributed to pulmonary tuberculosis. His alpha-fetoprotein was checked (for no apparent reason) at one and a half years of age and was elevated. Upon evaluation at 3 years and 8 months at our facility, his succinylacetone was significantly elevated. Liver function tests and coagulation results were also mildly elevated. Liver ultrasound was routine apart from gallstones. Targeted mutation testing revealed a fumarylacetoacetate hydrolase gene’s homozygous pathogenic variant (c.982C>T; p. Gln328*).
Conclusion: In conclusion, we presented a patient with an unusual, late presentation of HT1, to highlight the clinical variability in this rare, treatable metabolic disease.

Key words: Tyrosinemia Type I, Hereditary TyrosinemiaType 1, Nitisinone, FAH, Fumarylacetoacetate Hydrolase


 
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Pubmed Style

ALMahroos M, AlMannai M. Tyrosinemia type I: an unusual case presentation. JBCGenetics. 2022; 5(1): 17-19. doi:10.24911/JBCGenetics/183-1624791068


Web Style

ALMahroos M, AlMannai M. Tyrosinemia type I: an unusual case presentation. https://www.jbcgenetics.com/?mno=91001 [Access: March 13, 2024]. doi:10.24911/JBCGenetics/183-1624791068


AMA (American Medical Association) Style

ALMahroos M, AlMannai M. Tyrosinemia type I: an unusual case presentation. JBCGenetics. 2022; 5(1): 17-19. doi:10.24911/JBCGenetics/183-1624791068



Vancouver/ICMJE Style

ALMahroos M, AlMannai M. Tyrosinemia type I: an unusual case presentation. JBCGenetics. (2022), [cited March 13, 2024]; 5(1): 17-19. doi:10.24911/JBCGenetics/183-1624791068



Harvard Style

ALMahroos, M. & AlMannai, . M. (2022) Tyrosinemia type I: an unusual case presentation. JBCGenetics, 5 (1), 17-19. doi:10.24911/JBCGenetics/183-1624791068



Turabian Style

ALMahroos, Marwa, and Mohammed AlMannai. 2022. Tyrosinemia type I: an unusual case presentation. Journal of Biochemical and Clinical Genetics, 5 (1), 17-19. doi:10.24911/JBCGenetics/183-1624791068



Chicago Style

ALMahroos, Marwa, and Mohammed AlMannai. "Tyrosinemia type I: an unusual case presentation." Journal of Biochemical and Clinical Genetics 5 (2022), 17-19. doi:10.24911/JBCGenetics/183-1624791068



MLA (The Modern Language Association) Style

ALMahroos, Marwa, and Mohammed AlMannai. "Tyrosinemia type I: an unusual case presentation." Journal of Biochemical and Clinical Genetics 5.1 (2022), 17-19. Print. doi:10.24911/JBCGenetics/183-1624791068



APA (American Psychological Association) Style

ALMahroos, M. & AlMannai, . M. (2022) Tyrosinemia type I: an unusual case presentation. Journal of Biochemical and Clinical Genetics, 5 (1), 17-19. doi:10.24911/JBCGenetics/183-1624791068





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