Compound: FDB013380 (Phosphoric acid)
Term: Homocarnosinosis
Definition: 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 Compounds Mapped to 'Homocarnosinosis'