A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency
Case seriesHumans
- Design
- Case series
- Subjects
- 1 patient plus family members
- What was measured
- Urinary carnosine and anserine excretion, serum carnosinase activity and chromosome analysis in a 30-month-old girl with hypotonia, developmental delay and tremor, and in her parents and brother.
What the authors reported
The child excreted large amounts of carnosine and anserine despite little meat intake; a meat-free diet reduced but did not abolish this. Serum carnosinase was extremely low. She carried a de novo terminal deletion of the paternal chromosome 18 (breakpoint q21.3); the father had normal carnosinase, the mother low activity and the brother intermediate activity with moderate hypercarnosinuria. The authors conclude the carnosinase locus lies on distal 18q and that the child was hemizygous for a maternal deficiency allele.
Limits of this study
Single case; the clinical phenotype of carnosinase deficiency is variable and causation is not established. Abstract only.
Source
PubMed 9029640 · doi:10.1203/00006450-199702000-00009
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.