Carnosinemia: a new metabolic disorder associated with neurologic disease and mental defect
Case seriesHumans
- Design
- Case series
- Subjects
- 2 patients
- What was measured
- Urinary and blood imidazole dipeptides in two patients identified through a urine screening program at a hospital for people with intellectual disability.
What the authors reported
The authors described two patients with a previously unreported disorder of impaired cleavage of imidazole dipeptides (carnosinaemia), found among many inborn errors of amino acid metabolism presenting with abnormal aminoaciduria and intellectual disability or neurological disease.
Limits of this study
Two cases. Full text not read. PubMed record carries no abstract, so findings could not be rechecked against PubMed.
Source
PubMed 6058610 · doi:10.1056/nejm196712072772302
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.