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GENATLAS PHENOTYPE

last update : 04-01-2022

Symbol	OGDHD
Location	7p13
Name	oxoglutaricaciduria, alpha-ketoglutarate dehydrogenase deficiency
Other name(s)	alpha-KGD deficiency 2-@oxoglutarate dehydrogenase deficiency oxoglutaric aciduria
Corresponding gene	OGDH
Main clinical features	congenital lactic acidosis, hypotonia and progressive neurologic deterioration, corpus callosum agenesis, leading to early death metabolic acidosis with acute episodes of acidotic decompensation and sometimes hypoglycemia occurred during infections
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
	congenital malformation
Type	disease

Gene product

Name	2-oxoglutarate dehydrogenase (OGDH)

Remark(s)

. biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease (PMID: 32383294))