combined malonic and methylmalonic acidemia

Summary
Synonym
  • CMAMMA
  • combined malonic and methylmalonic aciduria
Definition
An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
Super Class
autosomal recessive disease organic acidemia
External Links
Disease Ontology
DOID:0111263
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
197322 ACSF3 acyl-CoA synthetase family member 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q4G176 Malonate--CoA ligase ACSF3, mitochondrial
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0002354 Memory impairment
HP:0001250 Seizure
HP:0003215 Dicarboxylic aciduria
HP:0001993 Ketoacidosis
HP:0000708 Atypical behavior
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001943 Hypoglycemia
HP:0011169 Generalized clonic seizure
HP:0001298 Encephalopathy
Displaying 1 entry
Gene ID Gene Symbol Description
197322 ACSF3 acyl-CoA synthetase family member 3

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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