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 11 - 20 of 53 in total
HPO ID HPO Term
HP:0001875 Neutropenia
HP:0000083 Renal insufficiency
HP:0001903 Anemia
HP:0001259 Coma
HP:0002098 Respiratory distress
HP:0000648 Optic atrophy
HP:0001510 Growth delay
HP:0004374 Hemiplegia/hemiparesis
HP:0001266 Choreoathetosis
HP:0002017 Nausea and vomiting
Displaying 1 entry
Gene ID Gene Symbol Description
4594 MMUT methylmalonyl-CoA mutase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024