Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

2006 ◽  
Vol 73 (2) ◽  
pp. 163-165 ◽  
Author(s):  
Sunita Bijarnia ◽  
Ratna D. Puri ◽  
Jean Ruel ◽  
George F. Gray ◽  
Linda Jenkinson ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Type I ◽  
Tyrosinemia Type I

scholarly journals Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Jayesh J. Sheth ◽  
Chitra M. Ankleshwaria ◽  
Rajeshwari Pawar ◽  
Frenny J. Sheth
Keyword(s):  
Prenatal Diagnosis ◽  
Secondary Structure ◽  
Point Mutation ◽  
Splice Site ◽  
Experimental Program ◽  
Type I ◽  
Novel Mutations ◽  
Potential Donor ◽  
Tyrosinemia Type I ◽  
Fumarylacetoacetate Hydrolase

Carrier of tyrosinemia type I was diagnosed by sequencingFAH(fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point mutation as “benign” that creates a potential donor splice site and later one as “probably damaging” which disrupts secondary structure of protein.

First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination

1990 ◽  
Vol 10 (2) ◽  
pp. 133-134 ◽  
Author(s):  
C. Jakobs ◽  
F. Stellaard ◽  
E. A. Kvittingen ◽  
M. Henderson ◽  
R. Lilford
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
First Trimester ◽  
Type I ◽  
Tyrosinemia Type I

Chronic-Onset Hereditary Tyrosinemia Type I

2001 ◽  
Vol 20 (3) ◽  
pp. 241-244
Author(s):  
John Pohl ◽  
Catherine Hughes ◽  
Michael Farrell
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

2003 ◽  
Vol 39 (6) ◽  
pp. 901-909 ◽  
Author(s):  
Marjanka C Luijerink ◽  
Saskia M.M Jacobs ◽  
Ellen A.C.M van Beurden ◽  
Leander P Koornneef ◽  
Leo W.J Klomp ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Liver Gene ◽  
Hereditary Tyrosinemia

scholarly journals Hepatocellular targeted α-tocopherol based pH sensitive galactosylated lipids: design, synthesis and transfection studies

MedChemComm ◽  
2018 ◽  
Vol 9 (2) ◽  
pp. 264-274 ◽  
Author(s):  
Venkanna Muripiti ◽  
Brijesh Lohchania ◽  
Srujan Kumar Marepally ◽  
Srilakshmi V. Patri
Keyword(s):  
Gene Delivery ◽  
Genetic Disorders ◽  
Ph Sensitive ◽  
Type I ◽  
Design Synthesis ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Receptor mediated gene delivery to the liver offers advantages in treating genetic disorders such as hemophilia and hereditary tyrosinemia type I (HTI).

scholarly journals Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

1993 ◽  
Vol 91 (4) ◽  
pp. 1816-1821 ◽  
Author(s):  
E A Kvittingen ◽  
H Rootwelt ◽  
P Brandtzaeg ◽  
A Bergan ◽  
R Berger
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

scholarly journals A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

2016 ◽  
Vol 33 (3) ◽  
pp. 370-372 ◽  
Author(s):  
Habibe Koc Ucar ◽  
Gokhan Tumgor ◽  
Deniz Kor ◽  
Fatih Kardas ◽  
Neslihan Onenli Mungan
Keyword(s):  
Case Report ◽  
Type I ◽  
Rare Association ◽  
Tyrosinemia Type I

scholarly journals Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

2009 ◽  
Vol 55 (12) ◽  
pp. 2207-2213 ◽  
Author(s):  
Barbara W Adam ◽  
Timothy H Lim ◽  
Elizabeth M Hall ◽  
W Harry Hannon
Keyword(s):  
Newborn Screening ◽  
Proficiency Testing ◽  
False Negative ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Type I ◽  
Primary Metabolite ◽  
Screening Practices ◽  
Tyrosinemia Type I ◽  
Stable Performance

Abstract Background: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I—an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate the performance of these screening tests. Methods: We prepared sets of DBS materials enriched with predetermined SUAC concentrations and distributed samples of these materials, along with a screening practices questionnaire, to laboratories that perform SUAC tests. We compared their reported SUAC concentrations and questionnaire responses to identify screening practices that affect SUAC test outcomes. Results: Data from 2 pilot surveys showed large differences among laboratories in SUAC recoveries, reproducible within-laboratory recoveries, and stable performance of the DBS materials. Results from 257 proficiency test analyses contained a total of 6 false-negative misclassifications. Reported recoveries of added SUAC ranged from 0 to >200%. Low-biased SUAC recoveries were associated with 1 method used by 5 laboratories. All laboratories that reported SUAC recoveries ≥100% used DBS matrix calibrators. Conclusions: The wide ranges of SUAC concentrations reported for pilot and proficiency testing specimens demonstrate a need to harmonize quantitative results among laboratories. Although DBS matrix calibrators are important for optimizing SUAC recoveries, the preparation of these calibrators is not standardized among laboratories. Certified DBS-based SUAC calibrators are needed for accuracy and harmonization.

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