| Title |
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ‐hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1−/− mice and characterization of γ‐hydroxybutyric acid pharmacology
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, April 2007
|
| DOI | 10.1007/s10545-007-0574-2 |
| Pubmed ID | |
| Authors |
I. Knerr, P. L. Pearl, T. Bottiglieri, O. Carter Snead, C. Jakobs, K. M. Gibson |
| Abstract |
We overview the pathophysiological bases, clinical approaches and potential therapeutic options for succinate semialdehyde dehydrogenase (SSADH; EC1.2.1.24) deficiency (gamma-hydroxybutyric aciduria, OMIM 271980, 610045) in relation to studies on SSADH gene-deleted mice, outcome data developed from 25 years of patient evaluation, and characterization of gamma-hydroxybutyric acid (GHB) pharmacology in different species. The clinical picture of this disorder encompasses a wide spectrum of neurological and psychiatric dysfunction, such as psychomotor retardation, delayed speech development, epileptic seizures and behavioural disturbances, emphasizing the multifactorial pathophysiology of SSADH deficiency. The murine SSADH-/- (e.g. Aldh5a1-/-) mouse model suffers from epileptic seizures and succumbs to early lethality. Aldh5a1-/- mice accumulate GHB and gamma-aminobutyric acid (GABA) in the central nervous system, exhibit alterations of amino acids such as glutamine (Gln), alanine (Ala) and arginine (Arg), and manifest disturbances in other systems including dopamine, neurosteroids and antioxidant status. Therapeutic concepts in patients with SSADH deficiency and preclinical therapeutic experiments are discussed in light of data collected from research in Aldh5a1-/- mice and animal studies of GHB pharmacology; these studies are the foundation for novel working approaches, including pharmacological and dietary trials, which are presented for future evaluation in this disease. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
| Science communicators (journalists, bloggers, editors) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 3% |
| Germany | 1 | 3% |
| Unknown | 29 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 13 | 42% |
| Student > Bachelor | 4 | 13% |
| Student > Ph. D. Student | 3 | 10% |
| Professor | 2 | 6% |
| Other | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 6 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 8 | 26% |
| Medicine and Dentistry | 7 | 23% |
| Biochemistry, Genetics and Molecular Biology | 3 | 10% |
| Neuroscience | 2 | 6% |
| Nursing and Health Professions | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 8 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 22 February 2022.
All research outputs
#4,555,816
of 23,172,045 outputs
Outputs from Journal of Inherited Metabolic Disease
#269
of 1,870 outputs
Outputs of similar age
#13,142
of 72,800 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#2
of 9 outputs
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So far Altmetric has tracked 1,870 research outputs from this source. They receive a mean Attention Score of 4.7. This one has done well, scoring higher than 85% of its peers.
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