Abstract
Two sisters, both microcephalic at birth and of low birthweight, are described. They are both severely mentally retarded and dwarfed, and have developed diabetes mellitus. Their teeth show enamel hypoplasia. Excessive quantities of alanine were found in their urine, which was associated with high levels of alanine pyruvate and lactate in the blood.
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.
- Clayton B. E., Dobbs R. H., Patrick A. D. Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate. Arch Dis Child. 1967 Oct;42(225):467–478. doi: 10.1136/adc.42.225.467. [DOI] [PMC free article] [PubMed] [Google Scholar]
- GLOSTER J. A., HARRIS P. Observations on an enzymic method for the estimation of pyruvate in blood. Clin Chim Acta. 1962 Mar;7:206–211. doi: 10.1016/0009-8981(62)90011-6. [DOI] [PubMed] [Google Scholar]
- HARTMANN A. F., Sr, WOHLTMANN H. J., PURKERSON M. L., WESLEY M. E. Lactate metabolism. Studies of a child with a serious congenital deviation. J Pediatr. 1962 Aug;61:165–180. doi: 10.1016/s0022-3476(62)80251-0. [DOI] [PubMed] [Google Scholar]
- Haworth J. C., Ford J. D., Younoszai M. K. Familial chronic acidosis due to an error in lactate and pyruvate metabolism. Can Med Assoc J. 1967 Sep 23;97(13):773–779. [PMC free article] [PubMed] [Google Scholar]
- Hommes F. A., Polman H. A., Reerink J. D. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child. 1968 Aug;43(230):423–426. doi: 10.1136/adc.43.230.423. [DOI] [PMC free article] [PubMed] [Google Scholar]
- LEIGH D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 1951 Aug;14(3):216–221. doi: 10.1136/jnnp.14.3.216. [DOI] [PMC free article] [PubMed] [Google Scholar]
- THOMPSON R. H., BUTTERFIELD W. J., FRY I. K. Pyruvate metabolism in diabetic neuropathy. Proc R Soc Med. 1960 Feb;53:143–146. doi: 10.1177/003591576005300212. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Worsley H. E., Brookfield R. W., Elwood J. S., Noble R. L., Taylor W. H. Lactic acidosis with necrotizing encephalopathy in two sibs. Arch Dis Child. 1965 Oct;40(213):492–501. doi: 10.1136/adc.40.213.492. [DOI] [PMC free article] [PubMed] [Google Scholar]