Orotic aciduria

Orotic aciduria

Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020

Christian Staufner

Orotic aciduria represents pyrimidine nucleotide starvation in man. It appears to be the first human nutritional auxotrophic disease to be recognized. The therapeutic effect of uridine is supportive of this hypothesis.

ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome

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Journal Information

Published in Pediatric Hematology and Oncology, 2019

Meghna Srinath, Emily Coberly, Kimberly Ebersol, Kirstin Binz, Katsiaryna Laziuk, William T. Gunning, Barbara Gruner, Richard Hammer, Bindu Kanathezhath Sathi

Repeat bone marrow aspirate and biopsy 15 months after initial examination found megaloblastic erythropoiesis and decreased iron stores without evidence of dysplasia or excess blasts (Figure 1 B2, C2, D2), and the immunostaining for Parvovirus B19 was negative. Flow cytometry demonstrated aberrant CD56 expression on granulocytes and monocytes. No dyserythropoietic features or inclusions were seen on electron microscopy. Whole exome oligonucleotide array revealed a region of homozygosity in chromosome 3 (3p12.2q11.2; 83,054,736–94,487,336; size 11.4Mb) which did not contain genes of clinical relevance to our case. Cytogenetics were negative for clonal abnormality and next-generation sequencing was negative for GATA1 mutation. OncoHeme next-generation Sequencing of bone marrow for Hematologic Malignancies (NGSHM) revealed a ZRSR2 point mutation on Chromosome X, with allele frequency of 100% (Figure 2). Testing for all other genetic forms of macrocytic anemia, including Orotic aciduria, was negative.

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Orotic aciduria

ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome