Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase ( UMPS ) mutation.
| Autor: | Al Absi HS; Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Al Zein N; Department of Pediatrics, Division of Hematology and Oncology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Al Shamsi A; Department of Pediatrics, Division of Genetics and Metabolic, Tawam Hospital, Al Ain, United Arab Emirates., Al Teneiji A; Department of Pediatrics, Division of Metabolic Genetics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates. |
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| Jazyk: | angličtina |
| Zdroj: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Jan 09; Vol. 26, pp. 100703. Date of Electronic Publication: 2021 Jan 09 (Print Publication: 2021). |
| DOI: | 10.1016/j.ymgmr.2020.100703 |
| Abstrakt: | Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the uridine-5-monophosphate synthase ( UMPS ) gene. To date, only about twenty patients have been described. We report a case of HOA with a novel variant in the UMPS gene. A 17-year-old Emirati girl was born to first-cousin parents. During the first year, she had recurrent, severe infections including disseminated varicella. After evaluation for immunodeficiency, an impression of immunodeficiency of unknown etiology was presumed. Frequent episodes of pancytopenia were also noted. Bone marrow biopsy showed trilineage megaloblastoid maturation with dysplastic changes that were refractory to hematinic therapy. Also, she was noted to have failure to thrive, developmental delay and epilepsy. She was referred to the Genetics clinic where whole-exome sequencing (WES) was done and showed a novel homozygous variant in the UMPS gene confirming a diagnosis of HOA. She was started on uridine triacetate after which she showed clinical, hematologic and biochemical improvement. Although extremely rare, hereditary orotic aciduria should be suspected in any child with megaloblastic bone marrow, immunodeficiency or when developmental delay and anemia coexist. Competing Interests: The authors state no conflict of interest. (© 2021 The Authors. Published by Elsevier Inc.) |
| Databáze: | MEDLINE |
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