Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form. More detailed information about the symptoms, causes, and treatments of Methylmalonicaciduria, vitamin B12 unresponsive, mut 0 is available below.
See full list of 15 symptoms of Methylmalonicaciduria, vitamin B12 unresponsive, mut 0
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Prognosis for Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: Death usually occurs during the first few months of life. Survivors have neurological problems.
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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 Methylmalonicaciduria, vitamin B12 unresponsive, mut 0 as a "rare disease".
Source - Orphanet
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