orotic aciduria
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2021 ◽  
pp. 65-66
Author(s):  
Upasana Patra ◽  
Deepak Bharaj ◽  
Saroj Sekhar Rath ◽  
Subhakankhi Barik

Hereditary orotic aciduria (HOA) is an extremely rare inborn error of pyrimidine metabolism. It results from a defect in the uridine-5-monophosphate synthase (UMPS) gene. It can result in megaloblastic anemia, developmental delay and crystalluria. Molecular genetics is the conrm diagnostic modality. Uridine triacetate is the only established treatment. We thus report a case of 13 month male child having developmental delay with regression, dysmorphic facies, nystagmus, skeletal abnormalities and massive hepatosplenomegaly with past history of repeated LRTI. After clinical evaluation, an impression of storage disorder was presumed. Bicytopenia was also obtained in CBC with high MCV. After detailed evaluation with haematological, bone marrow, TMS and GCMS of urine, a diagnosis of hereditary orotic aciduria was established. Although extremely rare, hereditary orotic aciduria should be suspected in any child with megaloblastic bone marrow, immunodeciency or when developmental delay and anemia coexist


2021 ◽  
Vol 26 ◽  
pp. 100703
Author(s):  
Hebah S. Al Absi ◽  
Stephanie Sacharow ◽  
Naser Al Zein ◽  
Aisha Al Shamsi ◽  
Amal Al Teneiji
Keyword(s):  

2020 ◽  
pp. 544-547
Author(s):  
Christian Staufner
Keyword(s):  

2020 ◽  
Vol 66 (2) ◽  
pp. 396-397
Author(s):  
Hana Vakili ◽  
Luis Alfredo Umaña ◽  
Khushbu Patel
Keyword(s):  

Gene Reports ◽  
2019 ◽  
Vol 16 ◽  
pp. 100457
Author(s):  
Zeinab Ravesh ◽  
Vahid Reza Yassaee ◽  
Seyed Hasan Tonekaboni ◽  
Maryam Razzaghy-Azar ◽  
Feyzollah Hashemi-Gorji ◽  
...  

2017 ◽  
Vol 40 (3) ◽  
pp. 423-431 ◽  
Author(s):  
Saskia B. Wortmann ◽  
◽  
Margaret A. Chen ◽  
Roberto Colombo ◽  
Alessandro Pontoglio ◽  
...  

2016 ◽  
Vol 47 (06) ◽  
pp. 408-409
Author(s):  
Jon Gangoiti ◽  
William Nyhan
Keyword(s):  

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