Disorders of Intracellular Cobalamin Metabolism

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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Disorders of Intracellular Cobalamin Metabolism is related to homocystinuria due to defect in methylation cbl e and hypermethioninemia. An important gene associated with Disorders of Intracellular Cobalamin Metabolism is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Diseases of glycosylation. Affiliated tissues include spinal cord and eye.
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Basic Information

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Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
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Unknown
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6
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Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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