Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine
Laboratory studyHumans
- Design
- Laboratory study
- What was measured
- Serum carnosinase and homocarnosinase activity in patients with homocarnosinosis, normal human brain extracts, 13 other human tissues and cerebrospinal fluid.
What the authors reported
Patients with homocarnosinosis were deficient in serum carnosinase, which hydrolyses homocarnosine at about 5 percent of the rate for carnosine. No separate homocarnosinase was detected in normal brain after isoelectric focusing or chromatography; the brain's capacity to hydrolyse homocarnosine was attributable to serum carnosinase from trapped blood. Normal CSF contained serum carnosinase while a patient's CSF lacked it, so elevated CSF homocarnosine is attributed to serum carnosinase deficiency.
Limits of this study
Biochemical study on a small number of patient samples. Abstract only.
Source
PubMed 6616870 · doi:10.1016/0009-8981(83)90243-7
Entry checked against PubMed abstract (E-utilities) on 2026-10-19. The dose shown is the dose the researchers used. It is not a recommendation. How to read this page.