Ee(epema syndrome)Other Metabolites Mapped to 'Ethylmalonic encephalopathy'HMDB0001844 (Methylsuccinic acid) HMDB0000730 (Isobutyrylglycine) HMDB0000678 (Isovalerylglycine) HMDB0000808 (N-Butyrylglycine) HMDB0000339 (2-Methylbutyrylglycine) HMDB0000045 (Adenosine monophosphate) HMDB0000062 (L-Carnitine) HMDB0000220 (Palmitic acid) HMDB0000222 (Palmitoylcarnitine) HMDB0000250 (Pyrophosphate)
- HMDB0000339 (2-Methylbutyrylglycine)
- Ethylmalonic encephalopathy
- 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.