Elevated levels of BDNF and cathepsin‐ d as possible peripheral markers of neurodegeneration in plasma of patients with glutaric acidemia type I

2020 ◽  
Vol 80 (1) ◽  
pp. 42-49
Author(s):  
Gilian Guerreiro ◽  
Carlos Eduardo Diaz Jaques ◽  
Moacir Wajner ◽  
Carmen Regla Vargas
Keyword(s):  
Cathepsin D ◽  
Type I ◽  
Glutaric Acidemia Type I ◽  
Peripheral Markers

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

Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization

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 ◽  
...  
Keyword(s):  
Type I ◽  
Fluorescence Derivatization ◽  
Glutaric Acidemia Type I ◽  
Intramolecular Excimer

scholarly journals Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I

2002 ◽  
Vol 11 (4) ◽  
pp. 347-357 ◽  
Author(s):  
D. M. Koeller
Keyword(s):  
Mouse Model ◽  
Behavioral Analysis ◽  
Type I ◽  
Glutaric Acidemia Type I

Magnetic resonance imaging findings of adult-onset glutaric aciduria type I

2007 ◽  
Vol 48 (5) ◽  
pp. 557-559 ◽  
Author(s):  
G. Sonmez ◽  
H. Mutlu ◽  
E. Ozturk ◽  
H. O. Sildiroglu ◽  
A. T. Keskin ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Glutaric Aciduria ◽  
Glutaric Acidemia Type I ◽  
Glutaric Aciduria Type I

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.

053 — (PAS0011) Increased seizure susceptibility in an animal model of glutaric acidemia type I

2014 ◽  
Vol 38 ◽  
pp. 204-205
Author(s):  
M.V. Pasquetti ◽  
A.U. Amaral ◽  
B. Semiotti ◽  
S. Goodman ◽  
D.M. Koeller ◽  
...  
Keyword(s):  
Animal Model ◽  
Type I ◽  
Seizure Susceptibility ◽  
Glutaric Acidemia Type I

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

Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias

Neuroscience ◽  
2015 ◽  
Vol 308 ◽  
pp. 64-74 ◽  
Author(s):  
A.L. Colín-González ◽  
A.L. Paz-Loyola ◽  
I. Serratos ◽  
B. Seminotti ◽  
C.A.J. Ribeiro ◽  
...  
Keyword(s):  
Organic Acids ◽  
Rat Brain ◽  
Quinolinic Acid ◽  
Type I ◽  
Rat Brain Synaptosomes ◽  
Propionate Metabolism ◽  
Glutaric Acidemia Type I ◽  
Brain Synaptosomes

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

1995 ◽  
Vol 4 (3) ◽  
pp. 493-495 ◽  
Author(s):  
Cheryl R. Greenberg ◽  
David Reimer ◽  
Rupinder Singal ◽  
Barbara Triggs-Raine ◽  
Albert E. Chudley ◽  
...  
Keyword(s):  
Type I ◽  
Glutaric Acidemia Type I ◽  
Intron 1 ◽  
Dehydrogenase Gene
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