methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Summary
Synonym
  • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
  • methylmalonic aciduria mut type
  • vitamin B12-unresponsive methylmalonic aciduria
Definition
A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
Super Class
methylmalonic acidemia
External Links
Disease Ontology
DOID:0060740
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4125 MAN2B1 mannosidase alpha class 2B member 1
4594 MMUT methylmalonyl-CoA mutase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 53 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0001987 Hyperammonemia
HP:0001249 Intellectual disability
HP:0002240 Hepatomegaly
HP:0001733 Pancreatitis
HP:0000124 Renal tubular dysfunction
HP:0002072 Chorea
HP:0001332 Dystonia
HP:0100806 Sepsis
HP:0001254 Lethargy
Displaying 1 entry
Gene ID Gene Symbol Description
4594 MMUT methylmalonyl-CoA mutase

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024