Orotic aciduria hereditary: A rare metabolic disorder where an inherited enzyme deficiency (lack of orotidylic pyrophosphorylase and orotidylic decarboxylase or a lack of orotidylic decarboxylase only) impairs the body's ability to break down orotic acid which then builds up in the body and causes damage. More detailed information about the symptoms, causes, and treatments of Orotic aciduria hereditary is available below.
See full list of 17 symptoms of Orotic aciduria hereditary
Read more about complications of Orotic aciduria hereditary.
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Orotic aciduria hereditary as a "rare disease".
Source - Orphanet
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