scholarly journals Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

2022 ◽  
Vol 30 ◽  
pp. 100836
Author(s):  
Jaka Sikonja ◽  
Jernej Brecelj ◽  
Mojca Zerjav Tansek ◽  
Barbka Repic Lampret ◽  
Ana Drole Torkar ◽  
...  
Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2486 ◽  
Author(s):  
Willem G. van Ginkel ◽  
Danique van Vliet ◽  
Els van der Goot ◽  
Martijn H. J. R. Faassen ◽  
Arndt Vogel ◽  
...  

Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Neurocognitive deficiencies have been described in TT1 patients, that have, among others, been related to changes in plasma large neutral amino acids (LNAA) that could result in changes in brain LNAA and neurotransmitter concentrations. Therefore, this project aimed to investigate plasma and brain LNAA, brain neurotransmitter concentrations and behavior in C57 Bl/6 fumarylacetoacetate hydrolase deficient (FAH−/−) mice treated with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and/or diet and wild-type mice. Plasma and brain tyrosine concentrations were clearly increased in all NTBC treated animals, even with diet (p < 0.001). Plasma and brain phenylalanine concentrations tended to be lower in all FAH−/− mice. Other brain LNAA, were often slightly lower in NTBC treated FAH−/− mice. Brain neurotransmitter concentrations were usually within a normal range, although serotonin was negatively correlated with brain tyrosine concentrations (p < 0.001). No clear behavioral differences between the different groups of mice could be found. To conclude, this is the first study measuring plasma and brain biochemistry in FAH−/− mice. Clear changes in plasma and brain LNAA have been shown. Further research should be done to relate the biochemical changes to neurocognitive impairments in TT1 patients.


1996 ◽  
Vol 97 (1) ◽  
pp. 51-59 ◽  
Author(s):  
J. K. Ploos van Amstel ◽  
A. J. I. W. Bergman ◽  
E. A. C. M. van Beurden ◽  
J. F. M. Roijers ◽  
T. Peelen ◽  
...  

2017 ◽  
Vol 292 (11) ◽  
pp. 4755-4763 ◽  
Author(s):  
Li Li ◽  
Quanjun Zhang ◽  
Huaqiang Yang ◽  
Qingjian Zou ◽  
Chengdan Lai ◽  
...  

Author(s):  
G. V. Volynets ◽  
A. V. Nikitin ◽  
T. A. Skvortsova

Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) – the last enzyme of tyrosine catabolic pathway. Tyrosinemia type 1 is an autosomal recessive disorder. This paper presents a review of literature on the current state of diagnosticis and approaches to treatment of tyrosinemia using nitisinone and a low-protein diet, as well as the analysis of clinical manifestations and laboratory diagnostics of hereditary tyrosinemia type 1 in 17 children.


1998 ◽  
Vol 12 (1) ◽  
pp. 19-26 ◽  
Author(s):  
A.J.I.W. Bergman ◽  
I.E.T. van den Berg ◽  
W. Brink ◽  
B.T. Poll‐The ◽  
J.K. Ploos van Amstel ◽  
...  

Author(s):  
Sadaqat Ijaz ◽  
Muhammad Yasir Zahoor ◽  
Muhammad Imran ◽  
Sibtain Afzal ◽  
Munir A. Bhinder ◽  
...  

AbstractHereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in theThree Pakistani families, each having one child affected with HT1, were enrolled over a period of 1.5 years. Two of the affected children had died as they were presented late with acute form. All regions of theThree differentMost of the HT1 patients die before they present to hospitals in Pakistan, as is indicated by enrollment of only three families in 1.5 years. Most of those with late clinical presentation do not survive due to delayed diagnosis followed by untimely treatment. This tragic condition advocates the establishment of expanded newborn screening program for HT1 within Pakistan.


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