2-aminoadipic 2-oxoadipic aciduria

Summary
Synonym
  • AMOXAD
  • alpha-aminoadipic aciduria
Definition
An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.
Super Class
amino acid metabolic disorder autosomal recessive disease
External Links
Disease Ontology
DOID:0111453
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55526 DHTKD1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
209692 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361272 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43689 CG1544 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
494076 dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
403360 dhtkd1.L dehydrogenase E1 and transketolase domain containing 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179674 ogdh-2 Transketolase-like pyrimidine-binding domain-containing protein;putative 2-oxoglutarate dehydrogenase E1 component DHKTD1 homolog, mitochondrial

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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