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cobalamin_type [2022/02/08 01:54] – Scott Larsoncobalamin_type [2025/04/18 20:40] (current) – external edit 127.0.0.1
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     * Megaloblastic anemia       * Megaloblastic anemia  
     * Progressive Retinopathy      * Progressive Retinopathy 
-  * Late Onset+  * Later Childhood (>6 years) Onset
     * Gait abnormalities     * Gait abnormalities
     * Extrapyramidal symptoms     * Extrapyramidal symptoms
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     * Cognitive Disability      * Cognitive Disability 
     * No retinopathy     * No retinopathy
- 
 ====Eye Findings==== ====Eye Findings====
   * Retinopathy    * Retinopathy 
     * Spectrum from mild nerve fiber layer loss to advanced macular and optic nerve atrophy with "bone spicule" pigmentation      * Spectrum from mild nerve fiber layer loss to advanced macular and optic nerve atrophy with "bone spicule" pigmentation 
     * Reduced ERG responses      * Reduced ERG responses 
 +  * Nystagmus
 ====Other Findings==== ====Other Findings====
   * Failure to thrive, poor feeding, vomiting   * Failure to thrive, poor feeding, vomiting
-  * Microcephaly+  * Microcephaly, brain malformations 
   * Hypotonia   * Hypotonia
   * Speech delay   * Speech delay
   * 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 
   * Treatment includes supplementation with:    * Treatment includes supplementation with: 
     * hydroxycobalamin     * hydroxycobalamin
     * betaine     * betaine
-    * carnitine +    * 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}}
  
 {{tag>syndrome}} {{tag>syndrome}}