- Compound
- FDB022704 (Methylsuccinic acid)
- Term
- Ethylmalonic encephalopathy
- Definition
- a deficiency of this protein inhibits proper energy production in mitochondria and a deficiency in cytochrome c oxidase. this results in accumulation of 2-methylbutyrylglycine, n-butyrylglycine, isobutyrylglycine, isovalerylglycine, and methylsuccinic acid in urine.
- Parent Term
- Biochemical pathway
- Parent Definition
- A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
- Synonyms
Ee(epema syndrome)Other Compounds Mapped to 'Ethylmalonic encephalopathy'FDB022704 (Methylsuccinic acid) FDB022208 (Isobutyrylglycine) FDB022177 (Isovalerylglycine) FDB022256 (N-Butyrylglycine) FDB021963 (2-Methylbutyrylglycine) FDB030677 (AMP) FDB031084 (palmitate) FDB021910 (L-Palmitoylcarnitine) FDB030683 (ATP) FDB031004 (Mg2+) References