HEREDITARY OROTIC ACIDURIA WITH UNUSUAL PRESENTATION- A RARE CASE REPORT

Author:

Patra Upasana1,Bharaj Deepak1,Sekhar Rath Saroj2,Barik Subhakankhi3

Affiliation:

1. Junior Resident, Dept. Of Paediatrics, MKCG Medical College, Berhampur, Odisha.

2. Assistant professor, Dept. of paediatrics, MKCGMedical college, Berhampur, Odisha.

3. Senior Resident, Dept. of paediatrics, MKCG Medical college, Berhampur, Odisha.

Abstract

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

Publisher

World Wide Journals

Reference11 articles.

1. S. Balasubramaniam, J.A.Duley, J.Christodoulou. Inborn errors of pyrimidine metabolism: Clinical update and therapy, J. Inherit.Metab.Dis,37(5)(2014),pp.687-698.

2. Nyhan W.L 2018.Hereditary orotic aciduria.National organisation for rare disorders.

3. Uridine triacetate (xuriden) for hereditary orotic aciduria.The medical letter.http://secure.medicalletter.org/w1491g.published march 28,2016.accessed march 8,2018.

4. Nelson textbook of paediatrics, 21st edition, 2020;Disorders of Purine and Pyrimidine metabolism; Vol 1:817-827

5. T.W.Traut,M.E.Jones, Uracil metabolism-UMP synthesis from orotic acid or uridine and conversion of uracil to beta-alanine:enzymes and cDNAs. Prog.Nucleic Acid Res.Mol.Biol,53(1996),pp1-78

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