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| cobalamin_type [2022/02/08 02:03] – Scott Larson | cobalamin_type [2025/04/18 20:40] (current) – external edit 127.0.0.1 |
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| * Seizures | * Seizures |
| ====Etiology==== | ====Etiology==== |
| * Mutation in MMACHC gene | * Mutation in [[https://medlineplus.gov/genetics/gene/mmachc/|MMACHC gene]] |
| * Gene product converts dietary [[https://ods.od.nih.gov/factsheets/VitaminB12-HealthProfessional/|vitamin B12]] to the metabolically active forms | * Gene product converts dietary [[https://ods.od.nih.gov/factsheets/VitaminB12-HealthProfessional/|vitamin B12]] to the metabolically active forms |
| * Treatment includes supplementation with: | * Treatment includes supplementation with: |
| * folinic acid | * folinic acid |
| ====Reference==== | ====Reference==== |
| * {{ ::ocular_phenotype_in_patients_with_methylmalonic_aciduria_and_homocystinuria_cobalamin_c_type.pdf |Ocular Phenotype in Patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS 2008}} | * {{::ocular_phenotype_in_patients_with_methylmalonic_aciduria_and_homocystinuria_cobalamin_c_type.pdf |Ocular Phenotype in Patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS 2008}} |
| * {{ ::methylmalonic_aciduria_and_homocystinuria-associated_maculopathy.pdf |Methylmalonic aciduria and homocystinuria-associated maculopathy. Eye 2010}} | * {{::methylmalonic_aciduria_and_homocystinuria-associated_maculopathy.pdf |Methylmalonic aciduria and homocystinuria-associated maculopathy. Eye 2010}} |
| * {{ ::the_adolescent_and_adult_form_of_cobalamin_c_disease-_clinical_and_molecular_spectrum.pdf |The Adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry 2008}} | * {{::the_adolescent_and_adult_form_of_cobalamin_c_disease-_clinical_and_molecular_spectrum.pdf |The Adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry 2008}} |
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| {{tag>syndrome}} | {{tag>syndrome}} |
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