A patient with a deficiency of serum-carnosinase activity
Case seriesHumans
- Design
- Case series
- Subjects
- 1
- What was measured
- Urinary carnosine, plasma carnosine, serum carnosinase activity in the patient and parents, and the response of serum enzyme activity and urinary carnosine to infusion of donor plasma.
What the authors reported
The patient had severe intellectual disability, generalised convulsions and EEG abnormalities, with marked carnosinuria, no detectable plasma carnosine and greatly reduced serum carnosinase activity. The consanguineous parents also had reduced enzyme activity. Infusing fresh donor plasma containing active carnosinase raised serum enzyme activity for a time and lowered urinary carnosine.
Limits of this study
Single case report. Full text not read. PubMed record carries no abstract, so findings could not be rechecked against PubMed.
Source
PubMed 5378348 · doi:10.1111/j.1651-2227.1969.tb04766.x
Entry checked against PubMed record (title and citation only, no abstract); findings from OpenAlex abstract on 2026-10-19. The dose shown is the dose the researchers used. It is not a recommendation. How to read this page.