Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model

2019 ◽  
Vol 78 (1) ◽  
pp. 215-221 ◽  
Author(s):  
Moacir Wajner ◽  
Alexandre Umpierrez Amaral ◽  
Guilhian Leipnitz ◽  
Bianca Seminotti
Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linlin Huang ◽  
Ting Shi ◽  
Ying Li ◽  
Xiaozhong Li

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.


JIMD Reports ◽  
2021 ◽  
Author(s):  
Adam J. Guenzel ◽  
Patricia L. Hall ◽  
Anna I. Scott ◽  
Christina Lam ◽  
Irene J. Chang ◽  
...  

2021 ◽  
Author(s):  
Hesam Adin Atashi ◽  
Hamid Zaferani Arani ◽  
Seyyed Mojtaba Ghorani ◽  
Mahya Sadat Teimouri Khorasani ◽  
Masoumeh Moalem

Abstract Background: Permethrin (PER) is widely employed as the most frequently used type I synthetic pyrethroid insecticide. Despite its worldwide application, reports of pediatric toxicity following permethrin administration are scarce.Case presentation: The present case report involves a 12-year-old Afghan girl, with no previous medical problems, who drank an unknown insecticide covertly at home. Two hours after ingestion, she was taken to the emergency room with neither breathing signs nor a heartbeat. She was immediately transferred to the cardiopulmonary resuscitation (CPR) room, and her spontaneous circulation was returned after a few minutes of CPR. She was then intubated, volume resuscitated with intravenous normal saline, and connected to the mechanical ventilator after being transferred to the ICU ward. The patient remained comatose without spontaneous breathing, her pupils became bilateral mydriasis, and central diabetes insipidus became evident after three days due to apnea and hypoxic brain damage following insecticide ingestion. The chemical analysis of the insecticide bottle showed 10% permethrin without organophosphates, as initially expected. Unfortunately, after seven days, the patient passed away due to resistant hypotension and severe brain damage.Conclusion: Permethrin is widely used globally as an insecticide. However, there are many unmet needs in permethrin toxicity treatment, and the treatment is mainly supportive. Depending on the amount and dose of permethrin, the most common symptoms can vary from headache, dyspnea, and vomiting to metabolic acidosis and cardiac and respiratory arrest, which can lead to hypoxic brain damage and death, as was the outcome in our case.


2005 ◽  
Vol 359 (1-2) ◽  
pp. 179-188 ◽  
Author(s):  
Osama Y. Al-Dirbashi ◽  
Minnie Jacob ◽  
Mohammed Al-Amoudi ◽  
Khalid Al-Kahtani ◽  
Ahmed Al-Odaib ◽  
...  

2007 ◽  
Vol 48 (5) ◽  
pp. 557-559 ◽  
Author(s):  
G. Sonmez ◽  
H. Mutlu ◽  
E. Ozturk ◽  
H. O. Sildiroglu ◽  
A. T. Keskin ◽  
...  

Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.


2014 ◽  
Vol 38 ◽  
pp. 204-205
Author(s):  
M.V. Pasquetti ◽  
A.U. Amaral ◽  
B. Semiotti ◽  
S. Goodman ◽  
D.M. Koeller ◽  
...  

2007 ◽  
Vol 117 (11) ◽  
pp. 3258-3270 ◽  
Author(s):  
William J. Zinnanti ◽  
Jelena Lazovic ◽  
Cathy Housman ◽  
Kathryn LaNoue ◽  
James P. O’Callaghan ◽  
...  

2008 ◽  
Vol 80 (1) ◽  
pp. 85-99 ◽  
Author(s):  
Marianne G. Resende ◽  
Blima Fux ◽  
Brália C. Caetano ◽  
Erica A. Mendes ◽  
Neide M. Silva ◽  
...  

Toxoplasma gondii strains displaying the Type I/III genotype are associated with acquired ocular toxoplasmosis in humans. Here, we used a mice model to characterize some immunological mechanisms involved in host resistance to infection with such strains. We have chosen the Type I/III strains D8, G2 and P-Br, which cause a chronic infection in mice that resembles human toxoplamosis. Mice deficient of molecules MyD88, IFN-gamma, and IL-12 were susceptible to all three parasite strains. This finding indicates the importance of innate mechanisms in controlling infection. On the other hand, MHC haplotype did not influenced resistance/susceptibility; since mice lineages displaying a same genetic background but different MHC haplotypes (H2b or H2d) developed similar mortality and cyst numbers after infection with those strains. In contrast, the C57BL/6 genetic background, and not MHC haplotype, was critical for development of intestinal inflammation caused by any of the studied strains. Finally, regarding effector mechanisms, weobserved that B and CD8+ T lymphocytes controlled survival,whereas the inducible nitric oxide synthase influenced cyst numbers in brains of mice infected with Type I/III strains. These findings are relevant to further understanding of the immunologic mechanisms involved in host protection and pathogenesis during infection with T. gondii.


Sign in / Sign up

Export Citation Format

Share Document