Living with Hereditary orotic aciduria
An inherited metabolic condition causing anemia and delays in development in the first months of life.
Understanding Hereditary orotic aciduria
It usually shows in the first months of life with megaloblastic anemia (a low count of unusually large red blood cells) and delays in physical and intellectual development. GARD says it differs from other causes of orotic aciduria, such as mitochondrial disorders, lysinuric protein intolerance, and liver disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia
- Delays in development
- Enlarged spleen
- Repeated breathing infections
- Hip problems (hip dysplasia)
- Wide-set eyes and a wide nose bridge
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in UMPS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Human Growth Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the UMPS gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: oprt and odc deficiency; orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency; orotic aciduria; orotic aciduria i; oroticaciduria; orotidylic decarboxylase deficiency
Patient organizations
- Human Growth FoundationHereditary orotic aciduria · United States
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Perspectives from people navigating life with Hereditary orotic aciduria.
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