Search Result

Top
1 to 3 of 3
Entry Name Description Category Pathway Gene
H01022 Diseases of the tricarboxylic acid cycle Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate ... Inherited metabolic disorder (FMRD) FH [HSA:2271] [KO:K01679]
(MC2DN1) SDHA [HSA:6389] [KO:K00234]
(OGDHD) OGDH [HSA:4967] [KO:K00164]
H02006 Alpha-ketoglutarate dehydrogenase complex deficiency ... complex, and functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit, encoded by DLD, is common to two other enzymatic complexes ... Inherited metabolic disorder, Mitochondrial disease OGDH [HSA:4967] [KO:K00164]
DLD [HSA:1738] [KO:K00382]
H02562 Yoon-Bellen neurodevelopmental syndrome ... disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the ... Inherited metabolic disorder, Mitochondrial disease OGDHL [HSA:55753] [KO:K00164]
1 to 3 of 3

[ KEGG | DISEASE | DRUG | MEDICUS ]