Log In|Sign Up
ENMethylmalonic Acidemia with Homocystinuria
Alias:
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis
Methylmalonic Aciduria with Homocystinuria
Methylmalonic Aciduria and Homocystinuria
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Methionine Synthase Activities
Methylmalonic Acidemia and Homocystinemia
Methylmalonic Acidemia and Homocystinuria
Favorite
Methylmalonic Acidemia with Homocystinuria, also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, is related to methylmalonic aciduria and homocystinuria, cblc type and methylmalonic aciduria and homocystinuria, cblf type. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are intellectual disability and seizure
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
