HMDB0000030 (Biotin) HMDB0000045 (Adenosine monophosphate) HMDB0000051 (Ammonia) HMDB0000112 (gamma-Aminobutyric acid) HMDB0000123 (Glycine) HMDB0000124 (Fructose 6-phosphate) HMDB0000125 (Glutathione) HMDB0000148 (L-Glutamic acid) HMDB0000161 (L-Alanine) HMDB0000191 (L-Aspartic acid)
- HMDB0000191 (L-Aspartic acid)
- a defect in serum carnosinase causes accumulation of the brain specific dipeptide homocarnosine (hca), in the csf and brain. symptoms include hypotonia, mental retardation, retinitis pigmentosa and spastic diplegia/quadriplegia.
- 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.
- Other Metabolites Mapped to 'Homocarnosinosis'