Case Report
JBCGenetics. 2022; 5(1): 06-08

Tyrosinemia type I: an unusual case presentation

Authors: Marwa ALMahroos, Mohammed AlMannai.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1624791068

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.

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


© Copyright: Author(s)

Tyrosinemia type I: an unusual case presentation


Authors
Marwa ALMahroos
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Mohammed AlMannai
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
PubMed articlesGoogle scholar articles


Correspondence to:
. Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; maalmahroos@kfmc.med.sa

Publication history
Received 27 Jun 2021
Revised 05 Oct 2021
Accepted 14 Nov 2021
Published online 03 Jan 2022
Published in print 21 Mar 2022

How to cite this article

Pubmed Style

ALMahroos M, AlMannai M. Tyrosinemia type I: an unusual case presentation. JBCGenetics. 2022; 5(1): 06-08. 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: May 17, 2022]. 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): 06-08. doi:10.24911/JBCGenetics/183-1624791068


Vancouver/ICMJE Style

ALMahroos M, AlMannai M. Tyrosinemia type I: an unusual case presentation. JBCGenetics. (2022), [cited May 17, 2022]; 5(1): 06-08. doi:10.24911/JBCGenetics/183-1624791068


Harvard Style

ALMahroos, M. & AlMannai, . M. (2022) Tyrosinemia type I: an unusual case presentation. JBCGenetics, 5 (1), 06-08. 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), 06-08. 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), 06-08. 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), 06-08. 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), 06-08. doi:10.24911/JBCGenetics/183-1624791068


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