scholarly journals Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

2007 ◽  
Vol 117 (11) ◽  
pp. 3258-3270 ◽  
Author(s):  
William J. Zinnanti ◽  
Jelena Lazovic ◽  
Cathy Housman ◽  
Kathryn LaNoue ◽  
James P. O’Callaghan ◽  
...  
Keyword(s):  
Treatment Strategy ◽  
Type I ◽  
Glutaric Acidemia Type I ◽  
Novel Treatment ◽  
Age Dependent

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linlin Huang ◽  
Ting Shi ◽  
Ying Li ◽  
Xiaozhong Li
Keyword(s):  
Acute Kidney Injury ◽  
Case Report ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Kidney Injury ◽  
Febrile Illness ◽  
Type I ◽  
Continuous Venovenous Hemodiafiltration ◽  
Glutaric Acidemia Type I ◽  
Acute Decompensation

This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G>A (p.R128Q) and c.873delC (p.N291Kfs*41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs*41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.

scholarly journals The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

JIMD Reports ◽  
2021 ◽  
Author(s):  
Adam J. Guenzel ◽  
Patricia L. Hall ◽  
Anna I. Scott ◽  
Christina Lam ◽  
Irene J. Chang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
False Negative ◽  
Type I ◽  
Glutaric Acidemia Type I

Remote Ischemia Conditioning: A Novel Treatment Strategy to Minimize the Intestinal Damage of Midgut Volvulus

2019 ◽  
Vol 229 (4) ◽  
pp. S216
Author(s):  
Haitao Zhu ◽  
Edoardo Bindi ◽  
Bo Li ◽  
Carol M. Lee ◽  
Mashriq Alganabi ◽  
...  
Keyword(s):  
Treatment Strategy ◽  
Intestinal Damage ◽  
Midgut Volvulus ◽  
Novel Treatment

scholarly journals Transcriptomic profiling of docetaxel resistant prostate cancer cells and identification of novel treatment strategy

2013 ◽  
Vol 11 (8) ◽  
pp. 599-600
Author(s):  
Dara Lundon ◽  
Amanda O'Neill ◽  
Maria Prencipe ◽  
Sinead Ahearne ◽  
Padraig Doolan ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Cells ◽  
Treatment Strategy ◽  
Prostate Cancer Cells ◽  
Transcriptomic Profiling ◽  
Novel Treatment

scholarly journals Primary Prevention of Sudden Death as a Novel Treatment Strategy in Hypertrophic Cardiomyopathy

Circulation ◽  
2003 ◽  
Vol 107 (23) ◽  
pp. 2872-2875 ◽  
Author(s):  
Barry J. Maron ◽  
N. A. Mark Estes ◽  
Martin S. Maron ◽  
Adrian K. Almquist ◽  
Mark S. Link ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Primary Prevention ◽  
Sudden Death ◽  
Treatment Strategy ◽  
Novel Treatment

scholarly journals Change in Long-Spacing Collagen in Descemet's Membrane of Diabetic Goto-Kakizaki Rats and Its Suppression by Antidiabetic Agents

2008 ◽  
Vol 2008 ◽  
pp. 1-8 ◽  
Author(s):  
Yoshihiro Akimoto ◽  
Hajime Sawada ◽  
Mica Ohara-Imaizumi ◽  
Shinya Nagamatsu ◽  
Hayato Kawakami
Keyword(s):  
Wistar Rats ◽  
Collagen Type I ◽  
Diabetic Rats ◽  
Type I ◽  
Antidiabetic Agents ◽  
Gk Rats ◽  
Extracellular Matrix Components ◽  
Descemet's Membrane ◽  
Age Dependent ◽  
Descemet’S Membrane

We examined changes in the ultrastructure and localization of major extracellular matrix components, including 5 types of collagen (type I, III, IV, VI, and VIII), laminin, fibronectin, and heparan sulfate proteoglycan in Descemet's membrane of the cornea of diabetic GK rats. In the cornea of diabetic GK rats, more long-spacing collagen fibrils were observed in Descemet's membrane than in the membrane of the nondiabetic Wistar rats. Both GK and Wistar rats showed an age-dependent increase in the density of the long-spacing collagen. Immunoelectron microscopy showed that type VIII collagen was localized in the internodal region of the long-spacing collagen, which was not labelled by any of the other antibodies used. The antidiabetic agents nateglinide and glibenclamide significantly suppressed the formation of the long-spacing collagen in the diabetic rats. Long-spacing collagen would thus be a useful indicator for studying diabetic changes in the cornea and the effect of antidiabetic agents.

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