Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case

2020 ◽  
Vol 129 (4) ◽  
pp. 272-277
Author(s):  
Steven F. Dobrowolski ◽  
Ahmad Alodaib ◽  
Anuradha Karunanidhi ◽  
Shrabini Basu ◽  
Meghan Holecko ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase

scholarly journals Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review

2018 ◽  
pp. 55-60
Author(s):  
Morteza Alijanpour Aghamaleki ◽  
Masoomeh Rezapour ◽  
Kazem Babazadeh ◽  
Hassan Zamani ◽  
Faeze Aghajanpour
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

2000 ◽  
Vol 23 (5) ◽  
pp. 497-504 ◽  
Author(s):  
K. L. Chambliss ◽  
R. G. F. Gray ◽  
G. Rylance ◽  
R. J. Pollitt ◽  
K. M. Gibson
Keyword(s):  
Molecular Characterization ◽  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase

scholarly journals Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue

2021 ◽  
pp. 088307382098774
Author(s):  
Dana C. Walters ◽  
Regan Lawrence ◽  
Trevor Kirby ◽  
Jared T. Ahrendsen ◽  
Matthew P. Anderson ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dehydrogenase Deficiency ◽  
Metabotropic Glutamate Receptor ◽  
Total Phospholipid ◽  
Null Mouse ◽  
Succinic Semialdehyde ◽  
Long Term Effects ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Succinic Semialdehyde Dehydrogenase Deficiency

This study has extended previous metabolic measures in postmortem tissues (frontal and parietal lobes, pons, cerebellum, hippocampus, and cerebral cortex) obtained from a 37-year-old male patient with succinic semialdehyde dehydrogenase deficiency (SSADHD) who expired from SUDEP (sudden unexplained death in epilepsy). Histopathologic characterization of fixed cortex and hippocampus revealed mild to moderate astrogliosis, especially in white matter. Analysis of total phospholipid mass in all sections of the patient revealed a 61% increase in cortex and 51% decrease in hippocampus as compared to (n = 2-4) approximately age-matched controls. Examination of mass and molar composition of major phospholipid classes showed decreases in phospholipids enriched in myelin, such as phosphatidylserine, sphingomyelin, and ethanolamine plasmalogen. Evaluation of gene expression (RT2 Profiler PCR Arrays, GABA, glutamate; Qiagen) revealed dysregulation in 14/15 GABAA receptor subunits in cerebellum, parietal, and frontal lobes with the most significant downregulation in ∊, θ, ρ1, and ρ2 subunits (7.7-9.9-fold). GABAB receptor subunits were largely unaffected, as were ionotropic glutamate receptors. The metabotropic glutamate receptor 6 was consistently downregulated (maximum 5.9-fold) as was the neurotransmitter transporter (GABA), member 13 (maximum 7.3-fold). For other genes, consistent dysregulation was seen for interleukin 1β (maximum downregulation 9.9-fold) and synuclein α (maximal upregulation 6.5-fold). Our data provide unique insight into SSADHD brain function, confirming astrogliosis and lipid abnormalities previously observed in the null mouse model while highlighting long-term effects on GABAergic/glutamatergic gene expression in this disorder.

Methylmalonate-semialdehyde dehydrogenase (acylating)

1993 ◽  
pp. 135-137
Author(s):  
Dietmar Schomburg ◽  
Margit Salzmann ◽  
Dörte Stephan
Keyword(s):  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase
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