oxoglutarate dehydrogenase deficiency

Summary
Synonym
  • Oxoglutaric aciduria
  • alpha-ketoglutarate dehydrogenase deficiency
Definition
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.
Super Class
amino acid metabolic disorder autosomal recessive disease
External Links
Disease Ontology
DOID:0081326
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4967 OGDH oxoglutarate dehydrogenase
55753 OGDHL oxoglutarate dehydrogenase L
Displaying 1 entry
Gene ID Gene Symbol Description Source
18293 Ogdh oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
Displaying 1 entry
Gene ID Gene Symbol Description Source
360975 Ogdh oxoglutarate dehydrogenase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399021 ogdh.S oxoglutarate dehydrogenase S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177235 ogdh-1 2-oxoglutarate dehydrogenase, mitochondrial;Transketolase-like pyrimidine-binding domain-containing protein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0010286 Abnormal salivary gland morphology
HP:0000816 Abnormality of Krebs cycle metabolism
HP:0100022 Abnormality of movement
HP:0003202 Skeletal muscle atrophy
HP:0000238 Hydrocephalus
HP:0004322 Short stature
HP:0001251 Ataxia
HP:0012401 Abnormal urine alpha-ketoglutarate concentration
HP:0001276 Hypertonia
Displaying 1 entry
Gene ID Gene Symbol Description
4967 OGDH oxoglutarate dehydrogenase

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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