The outcome of seven patients with hereditary tyrosinemia type 1

Gökay, Songül; Ustkoyuncu, Pembe Soylu; Kardaş, Fatih; Kendirci, Mustafa

doi:10.1515/jpem-2015-0471

Cited by 11 publications

(29 citation statements)

References 24 publications

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“…In our study, the first signs were detected after six months of age (19/27) in contrast with report of Couce et al (21). Also growth retardation was detected at more high ratio (59.2%) in contrast with report of Gokay et al (19) and Zeybek et al (20). The mean interval from the first symptom of the diagnosis was 12.2 months.…”

Section: Discussioncontrasting

confidence: 98%

“…We have 29 HTI patients from 23 different families and consanguinity was noted in 14/23 (60.8%) of our patients' families. This is similar to the other studies of HTI reported from the Turkey (19,20). In Turkey HTI is not a part of national neonatal screening program, so diagnosis still depends on clinical suspicion and laboratory investigations.…”

Section: Discussionsupporting

confidence: 93%

“…The most remarkable laboratory findings were anemia, elevation of liver enzymes with impairment of the coagulation profile, elevated alkaline phosphatase, AFP and plasma tyrosinelevels. In acute HTI patients, laboratory findings were associated with more severe consistent previous reports (19)(20)(21). Urine SA ratio (93.1%) was higher in the report of Gokay et al (19) and Zeybek et al (20).…”

Section: Discussionsupporting

confidence: 85%

“…In acute HTI patients, laboratory findings were associated with more severe consistent previous reports (19)(20)(21). Urine SA ratio (93.1%) was higher in the report of Gokay et al (19) and Zeybek et al (20). Treatment can be started in patients who have response to drug treatment with normalization in serum AFP levels within the first year of therapy.…”

Section: Discussionsupporting

confidence: 85%

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Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Yazici¹,

Er²,

Canda³

et al. 2018

jpr

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Section: Discussioncontrasting

confidence: 98%

Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 85%

Section: Discussionsupporting

confidence: 85%

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Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Yazici¹,

Er²,

Canda³

et al. 2018

jpr

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“…Nonetheless, these findings represent a solid group of patients suffering from a very rare disease that lacks proper guidelines and should at least raise questions about optimal management of these patients. Close monitoring of the patients under nitisinone treatment seems imperative since mortal consequences such as LF and HCC can occur even among patients under treatment with very high rates to be taken lightly . Measurement of SA levels in either blood or urine is suggested in the literature, and unmeasurable levels should be targeted for a successful treatment .…”

Section: Discussionmentioning

confidence: 99%

Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients

Karaca

Yilmaz

Farajov

et al. 2019

Pediatric Transplantation

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Type 1 tyrosinemia is a rare metabolic disorder of the tyrosine degradation pathway. Due to the rarity of the disease, the best evidence literature offers is limited to guidelines based on expert opinions and optimal treatment is still a debate. LT serves as a definitive treatment of the defective metabolic pathway in the liver along with other serious disease manifestations such as LF and HCC. Nitisinone is a relatively new agent that is currently recommended for the medical management of the disease. Its mechanism of action is well understood, and efficacy is well established when started presymptomatically. This study aims to evaluate outcomes of 15 patients with type 1 tyrosinemia who underwent LT in nitisinone era and discuss its effect on prevention of HCC. A LT database of 1037 patients was reviewed. Data from 15 patients with type 1 tyrosinemia were retrospectively analyzed. All the patients except one were treated with nitisinone prior to LT. Most common indications for LT were LF and suspicious nodules. Seven patients had HCC. Mortality rate was 20% (n = 3). Nitisinone treatment has opened new horizons in the management of type 1 tyrosinemia, but LT still remains the only option for the patients developing LF and in the event of HCC. Neonatal screening programs utilizing blood succinyl acetone as the marker should be encouraged especially in the countries, such as Turkey, with high prevalence of consanguineous marriages.

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The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

Chi

Gan

Jiang

et al. 2022

Molec Gen & Gen Med

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Background: Hereditary tyrosinemia type 1 (HT1) is a rare inherited metabolic disease characterized by severe liver and renal dysfunction. Early identification in affected children is critical for improved treatment options and prognosis. Methods:In this study, we identified novel compound heterozygous mutations (NM_000137: c.657delC (p.K220Rfs*12) and c.607G>A (p.A203T)) in the fumarylacetoacetate hydrolase (FAH) gene in a family. We also characterized the clinical phenotype of the proband and verified the pathogenic effects of the mutations. Furthermore, we explored the pathogenic mechanism of renal injury through renal biopsy pathology and cell-based in vitro assays. Our study aims to verify the association between novel fumarylacetoacetate hydrolase (FAH) variants and HT1, confirm the pathogenic effects of the mutations and explore the pathogenic mechanism of renal injury. Results:We showed these FAH mutations were inherited in an autosomal recessive manner and resulted in abnormal FAH protein expression and dysfunction, leading to fumarylacetoacetate (FAA) accumulation. The proband also showed apparent renal injury, including glomerular filtration barrier dysfunction and abnormal tubular protein reabsorption.Conclusions: These observations may provide deeper insights on disease pathogenesis and identify potential therapeutic approaches for HT1 from a genetic perspective. Similarly, we hope to provide valuable information for genetic counseling and prenatal diagnostics.

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The outcome of seven patients with hereditary tyrosinemia type 1

Cited by 11 publications

References 24 publications

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

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