Homocarnosinosis: influence of dietary restriction of histidine
Case seriesHumans
- Design
- Case series
- Subjects
- 2 patients aged 33 and 39 with homocarnosinosis and neurological symptoms
- Duration
- nearly 2.5 years of histidine-restricted diet
- What was measured
- Histidine in CSF, plasma and urine, CSF homocarnosine, urinary carnosine and clinical neurological status during histidine restriction.
What the authors reported
Histidine fell by about 90 percent in CSF, plasma and urine. Within 5 to 6 months CSF homocarnosine fell by about 70 percent and urinary carnosine by 22 and 42 percent. Neurological symptoms (paraplegia, retinitis pigmentosa, progressive mental deficiency) did not change significantly with these biochemical changes.
Limits of this study
Two patients, no control; the authors note the mother carried the biochemical defect without symptoms. Abstract only.
Source
PubMed 3736769 · doi:10.1007/BF00965207
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.