Homocarnosinosis: increased content of homocarnosine and deficiency of homocarnosinase in brain
Case seriesHumans
- Design
- Case series
- Subjects
- 1 patient (brain biopsy and CSF), 1 affected sibling, 1 unaffected mother, plus control subjects
- What was measured
- Homocarnosine in cerebrospinal fluid and frontal cortex, and homocarnosinase activity in a brain biopsy.
What the authors reported
In a 40-year-old woman with homocarnosinosis, homocarnosine was raised 20 to 40-fold in CSF and about 4-fold in frontal cortex, and homocarnosinase activity was undetectable in her brain biopsy. The authors conclude the enzyme deficiency is probably autosomal recessive but is unlikely on its own to explain the neurological syndrome.
Limits of this study
Single family; biopsy data from one patient. Full text not read. PubMed record carries no abstract, so findings could not be rechecked against PubMed.
Source
PubMed 448356 · doi:10.1111/j.1471-4159.1979.tb02273.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.