| Title |
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, July 2000
|
| DOI | 10.1023/a:1005616315087 |
| Pubmed ID | |
| Authors |
K. L. Chambliss, R. G. F. Gray, G. Rylance, R. J. Pollitt, K. M. Gibson |
| Abstract |
Three patients have been reported with (putative) methylmalonic semialdehyde dehydrogenase (MMSDH) deficiency. The urine metabolic pattern was strikingly different in all, including beta-alanine, 3-hydroxypropionic acid, both isomers of 3-amino- and 3-hydroxyisobutyric acids in one and 3-hydroxyisobutyric and lactic acids in a second, and mild methylmalonic aciduria in a third patient. In an effort to clarify these disparate metabolite patterns, we completed the cDNA structure, and characterized the genomic structure of human MMSDH gene in order to undertake molecular analysis. Only the first patient had alterations in the MMSDH coding region, revealing homozygosity for a 1336G > A transversion, which leads to substitution of arginine for highly conserved glycine at amino acid 446. No abnormalities of the MMSDH cDNA were detected in the other patients. These data provide the first molecular characterization of an inborn error of metabolism specific to the L-valine catabolic pathway. |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Portugal | 1 | 6% |
| Unknown | 17 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 28% |
| Researcher | 4 | 22% |
| Student > Bachelor | 2 | 11% |
| Professor > Associate Professor | 2 | 11% |
| Lecturer | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 5 | 28% |
| Biochemistry, Genetics and Molecular Biology | 4 | 22% |
| Medicine and Dentistry | 2 | 11% |
| Immunology and Microbiology | 1 | 6% |
| Environmental Science | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 3 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 September 2017.
All research outputs
#8,154,779
of 24,451,065 outputs
Outputs from Journal of Inherited Metabolic Disease
#757
of 1,956 outputs
Outputs of similar age
#13,174
of 39,853 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#1
of 12 outputs
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