Inborn errors of carnosine and homocarnosine metabolism
Case seriesHumans
- Design
- Case series
- Subjects
- 23 reported children with carnosinase deficiency; one family of four adults with homocarnosinosis; loading tests in 2 patients and 2 controls
- What was measured
- Serum carnosinase, carnosinuria, CSF and brain homocarnosine, clinical status, and the rate of metabolism of ingested carnosine, anserine and homocarnosine.
What the authors reported
Serum carnosinase deficiency with carnosinuria had been reported in 23 children with neurological signs or intellectual disability. In one family, four adults had the deficiency with raised CSF and brain homocarnosine; the mother was symptom free while her three children had spastic paraparesis, retinitis pigmentosa and intellectual disability, so the authors conclude the enzyme deficiency alone does not cause the neurological symptoms. Two affected children metabolised ingested carnosine, anserine and homocarnosine much more slowly than two controls.
Limits of this study
Review of case material; small numbers. Abstract only.
Source
PubMed 2358806 · doi:10.1007/978-3-7091-9050-0_10
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.