" /> Oxoglutarate dehydrogenase deficiency - CISMeF





Preferred Label : Oxoglutarate dehydrogenase deficiency;

Symbol : OGDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 2-ketoglutarate dehydrogenase deficiency; Alpha-kgd deficiency; Oxoglutaric aciduria; Alpha-ketoglutarate dehydrogenase deficiency;

Description : Alpha-ketoglutarate dehydrogenase deficiency is sometimes a feature of DLD deficiency (DDLD; 246900), which is caused by mutation in the DLD gene (238331) on chromosome 7q31-q32.;

Inheritance : Autosomal recessive;

Prefixed ID : #203740;

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04/05/2025


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