Serum carnosinase deficiency: a non-disabling phenotype?
Case seriesHumans
- Design
- Case series
- Subjects
- 10 individuals
- What was measured
- Urinary carnosine excretion after 3 days on a meat-free diet, cerebrospinal fluid homocarnosine, residual serum carnosinase activity and clinical features.
What the authors reported
The authors describe 10 further people with serum carnosinase deficiency, adding to 13 cases reported before. All kept excreting increased carnosine in urine after 3 days without meat. Serum carnosinase activity ranged from 0 to 30% of normal. CSF homocarnosine in three individuals ranged from 3.4 to 15 mM. Symptoms varied widely (attention deficit disorder in four, one clinically normal, and single cases of developmental delay, seizures, hearing loss and childhood dementia) and did not correlate with residual enzyme activity. The authors say this strengthens the suspicion that the deficiency is unrelated to neurological symptoms, though there may be an association with a predisposition to mental deficiency, and call for more cases.
Limits of this study
Uncontrolled case series with varied ascertainment; the authors themselves question whether the deficiency causes disability. Full text not read.
Source
PubMed 4093964 · doi:10.1111/j.1365-2788.1985.tb00364.x
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.