Abstract
Five infants from two families with the clinical features of hyperglycinaemia and hyperglycinuria are described. In four of these cases spongy degeneration of the central nervous system is associated with lipid-filled glial cells and retarded myelination. The origin of these changes is discussed and the relationship of the lesions to the metabolic defect is reviewed. The importance of such cases in the understanding of the normal metabolism of the nervous system is stressed.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Adachi M., Wallace B. J., Schneck L., Volk B. W. Fine structure of spongy degeneration of the central nervous system (van Bogaert and Bertrand type). J Neuropathol Exp Neurol. 1966 Oct;25(4):598–616. doi: 10.1097/00005072-196610000-00007. [DOI] [PubMed] [Google Scholar]
- BLACKWOOD W., CUMINGS J. N. A histological and chemical study of three cases of diffuse cerebral sclerosis. J Neurol Neurosurg Psychiatry. 1954 Feb;17(1):33–49. doi: 10.1136/jnnp.17.1.33. [DOI] [PMC free article] [PubMed] [Google Scholar]
- CHILDS B., NYHAN W. L., BORDEN M., BARD L., COOKE R. E. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. 1961 Apr;27:522–538. [PubMed] [Google Scholar]
- Davison A. N., Dobbing J. Myelination as a vulnerable period in brain development. Br Med Bull. 1966 Jan;22(1):40–44. doi: 10.1093/oxfordjournals.bmb.a070434. [DOI] [PubMed] [Google Scholar]
- FREYCON M. T. [Idiopathic hyperglycinemia]. Pediatrie. 1961;16:527–529. [PubMed] [Google Scholar]
- NYHAN W. L., CHISOLM J. J., Jr, EDWARDS R. O., Jr Idiopathic hyperglycinuria. III. Report of a second case. J Pediatr. 1963 Apr;62:540–545. doi: 10.1016/s0022-3476(63)80012-8. [DOI] [PubMed] [Google Scholar]
- TADA K., YOSHIDA T., MORIKAWA T., MINAKAWA A., WADA Y., ANDO T., SHIMURA K. IDIOPATHIC HYPERGLYCINEMIA (THE FIRST CASE IN JAPAN). Tohoku J Exp Med. 1963 Aug 25;80:218–226. doi: 10.1620/tjem.80.218. [DOI] [PubMed] [Google Scholar]
- VISSER H. K., VEENSTRA H. W., PIK C. HYPERGLYCINAEMIA AND HYPERGLYCINURIA IN A NEWBORN INFANT. Arch Dis Child. 1964 Aug;39:397–402. doi: 10.1136/adc.39.206.397. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ZU RHEIN G. M., EICHMAN P. L., PULETTI F. Familial idiocy with spongy degeneration of the central nervous system of van Bogaert--Bertrand type. Neurology. 1960 Nov;10:998–1006. doi: 10.1212/wnl.10.11.998. [DOI] [PubMed] [Google Scholar]