| Chapter title |
Inborn errors of carnosine and homocarnosine metabolism.
|
|---|---|
| Chapter number | 10 |
| Book title |
Neurotransmitter Actions and Interactions
|
| Published in |
Journal of neural transmission Supplementum, January 1990
|
| DOI | 10.1007/978-3-7091-9050-0_10 |
| Pubmed ID | |
| Book ISBNs |
978-3-21-182142-8, 978-3-70-919050-0
|
| Authors |
L R Gjessing, H A Lunde, L Mørkrid, J F Lenney, O Sjaastad, Gjessing, L. R., Lunde, H. A., MØrkrid, L., Lenney, J. F., Sjaastad, O. |
| Abstract |
Serum carnosinase deficiency with carnosinuria has been reported in 23 children with neurological signs and/or mental retardation. In adults four cases in one family had serum carnosinase deficiency, carnosinuria, and in addition elevated homocarnosine in CSF and in the brain. The mother was one of these cases but had no clinical symptoms; however her three children have spastic paraparesis, retinitis pigmentosa and mental retardation. Serum carnosinase deficiency alone is not the cause of the neurological symptoms. When two of the affected children consumed carnosine, anserine or homocarnosine, they metabolized these compounds much less rapidly than did two normal control individuals. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 5 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 2 | 40% |
| Professor | 2 | 40% |
| Unspecified | 1 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 1 | 20% |
| Nursing and Health Professions | 1 | 20% |
| Social Sciences | 1 | 20% |
| Medicine and Dentistry | 1 | 20% |
| Unknown | 1 | 20% |