| Title |
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review
|
|---|---|
| Published in |
European Journal of Pediatrics, September 2007
|
| DOI | 10.1007/s00431-007-0592-y |
| Pubmed ID | |
| Authors |
Ting-Yu Yen, Wuh-Liang Hwu, Yin-Hsiu Chien, Mei-Hwan Wu, Ming-Tai Lin, Lon-Yen Tsao, Wu-Shiun Hsieh, Ni-Chung Lee |
| Abstract |
Barth syndrome presents in infancy with hypotonia, dilated cardiomyopathy, and neutropenia. We report a patient whose family history included two males who had died suddenly at the age of 15 days and 2 years, respectively. The index case presented with acute metabolic decompensation at 13 days of age. Within 8 h of presenting with metabolic acidosis (pH 7.13), lactic acidemia (18.5 mmol/l), hyperammonemia (375 microg/dl), hypoglycemia (25 mg/dl), and coagulopathy, the patient developed respiratory failure and required intubation. The diagnosis was established by the presence of left ventricular noncompaction and molecular analysis (c.C153G or Y51X mutation of the TAZ gene). The gene product, taffazin, is a homologue of the glycerolipid transferases involved in the phospholipid metabolism as tetralinoleoyl-cardiolipin, a component of the mitochondrial inner membrane. In conclusion, mutations in taffazin impair mitochondrial respiratory chain complexes, which may results in the acute metabolic decompensation and sudden death; cardiac transplantation is the only possibility at the present time. |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 30 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 20% |
| Other | 4 | 13% |
| Researcher | 3 | 10% |
| Student > Bachelor | 3 | 10% |
| Student > Doctoral Student | 2 | 7% |
| Other | 4 | 13% |
| Unknown | 8 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 23% |
| Agricultural and Biological Sciences | 6 | 20% |
| Biochemistry, Genetics and Molecular Biology | 2 | 7% |
| Nursing and Health Professions | 2 | 7% |
| Immunology and Microbiology | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 11 | 37% |
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 24 August 2018.
All research outputs
#7,451,942
of 22,782,096 outputs
Outputs from European Journal of Pediatrics
#1,457
of 3,696 outputs
Outputs of similar age
#24,897
of 69,992 outputs
Outputs of similar age from European Journal of Pediatrics
#6
of 11 outputs
Altmetric has tracked 22,782,096 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,696 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 42nd percentile – i.e., 42% of its peers scored the same or lower than it.
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We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.