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International Journal of Medical Laboratory
Shahid Sadoughi University of Medical Sciences
Thu, Nov 13, 2025
[Archive]
Volume 9, Issue 4 (November 2022)
IJML 2022, 9(4): 256-261 |
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Sarkargar F, Madani Manshadi S A, Zare Mehrjardi E, Khodaei H, Kalantar S M, Mohammadi S A. A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III. IJML 2022; 9 (4) :256-261
URL: http://ijml.ssu.ac.ir/article-1-445-en.html
URL: http://ijml.ssu.ac.ir/article-1-445-en.html
Fatemeh Sarkargar 
, Seyed Ali Madani Manshadi , Ehsan Zare Mehrjardi 
, Hosein Khodaei , Seyed Mehdi Kalantar , Seyed Ahmad Mohammadi *
, Seyed Ali Madani Manshadi , Ehsan Zare Mehrjardi , Hosein Khodaei , Seyed Mehdi Kalantar , Seyed Ahmad Mohammadi *
Meybod Genetic Research Center, Meybod, Yazd, Iran
Abstract: (1189 Views)
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives.
Materials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing.
Results and Conclusion: Through whole-exome sequencing screening of heterozygotes c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.
Materials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing.
Results and Conclusion: Through whole-exome sequencing screening of heterozygotes c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.
Type of Study: case report |
Subject:
Genetics/ Biotechnology
Received: 2022/04/9 | Accepted: 2022/12/13 | Published: 2022/12/31
Received: 2022/04/9 | Accepted: 2022/12/13 | Published: 2022/12/31
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