scholarly journals Selective symmetrical necrotizing encephalopathy secondary to primary mitochondrial disorder in a cat

2021 ◽  
Author(s):  
Elena Dell'Era ◽  
Margherita Polidori ◽  
Marco Bernardini ◽  
Stefano Capomaccio ◽  
Katia Cappelli ◽  
...  
Keyword(s):  
Mitochondrial Disorder

CATASTROPHIC EPILEPSY IN PATIENTS WITH INFANTILE ONSET SPINOCEREBELLAR ATAXIA (IOSCA), A NUCLEAR MITOCHONDRIAL DISORDER

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
T Lonnqvist ◽  
A Paetau ◽  
H Pihko
Keyword(s):  
Spinocerebellar Ataxia ◽  
Mitochondrial Disorder ◽  
Catastrophic Epilepsy

Severe mitochondrial disorder in spite of normal findings? Alpers syndrome due to homozygosity for A467T mutation in POLG gene

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
N Utzig ◽  
C Burtzlaff ◽  
R Horvath ◽  
H Lauffer
Keyword(s):  
Mitochondrial Disorder ◽  
Polg Gene

ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy

2018 ◽  
pp. 98-101
Author(s):  
Sadia Tabassum ◽  
Ali Otaibi ◽  
Rowim Mutairi ◽  
Mohammed Mannai
Keyword(s):  
Mitochondrial Disorder

scholarly journals Review and Consensus on Pharmacogenomic Testing in Psychiatry

2020 ◽  
Vol 54 (01) ◽  
pp. 5-17 ◽  
Author(s):  
Chad A. Bousman ◽  
Susanne A. Bengesser ◽  
Katherine J. Aitchison ◽  
Azmeraw T. Amare ◽  
Harald Aschauer ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Healthcare Providers ◽  
Mitochondrial Disorder ◽  
Human Leukocyte ◽  
Evidence Base ◽  
Mood Stabilizers ◽  
Leukocyte Antigen ◽  
Published Evidence ◽  
Cytochrome P450 Genes ◽  
Medication Selection

AbstractThe implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, the International Society of Psychiatric Genetics assembled a group of experts to conduct a narrative synthesis of the PGx literature, prescribing guidelines, and product labels related to psychotropic medications as well as the key considerations and limitations related to the use of PGx testing in psychiatry. The group concluded that to inform medication selection and dosing of several commonly-used antidepressant and antipsychotic medications, current published evidence, prescribing guidelines, and product labels support the use of PGx testing for 2 cytochrome P450 genes (CYP2D6, CYP2C19). In addition, the evidence supports testing for human leukocyte antigen genes when using the mood stabilizers carbamazepine (HLA-A and HLA-B), oxcarbazepine (HLA-B), and phenytoin (CYP2C9, HLA-B). For valproate, screening for variants in certain genes (POLG, OTC, CSP1) is recommended when a mitochondrial disorder or a urea cycle disorder is suspected. Although barriers to implementing PGx testing remain to be fully resolved, the current trajectory of discovery and innovation in the field suggests these barriers will be overcome and testing will become an important tool in psychiatry.

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

2021 ◽  
pp. 088307382110065
Author(s):  
Jaehyung Lim ◽  
Brian J. Shayota ◽  
Erica Lay ◽  
Sarah H. Elsea ◽  
Mir Reza Bekheirnia ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Mitochondrial Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Restriction Pattern ◽  
Spastic Diplegia ◽  
Ethylmalonic Encephalopathy ◽  
Developmental Regression ◽  
Downstream Effects ◽  
Cystic Changes

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.

scholarly journals An autopsy case of sudden death suspected by mitochondrial disorder and Pearson’s marrow pancreas syndrome

2019 ◽  
Vol 1 ◽  
pp. 100026
Author(s):  
Shuji Kozawa ◽  
Takuma Yamamoto ◽  
Kazuya Ikematsu ◽  
Masayuki Nata
Keyword(s):  
Sudden Death ◽  
Mitochondrial Disorder ◽  
Autopsy Case

scholarly journals PO-0714 Respirometry Of Platelets Suggests Mitochondrial Disorder In A Newborn Infant With Lethal Hepatopathy And Encephalopathy

2014 ◽  
Vol 99 (Suppl 2) ◽  
pp. A487.2-A487
Author(s):  
N Tomasic ◽  
H Kotarsky ◽  
E Hansson ◽  
E Elmer ◽  
V Fellman
Keyword(s):  
Newborn Infant ◽  
Mitochondrial Disorder

scholarly journals Intramyocellular lipid excess in the mitochondrial disorder MELAS

2017 ◽  
Vol 3 (3) ◽  
pp. e160 ◽  
Author(s):  
Sailaja Golla ◽  
Jimin Ren ◽  
Craig R. Malloy ◽  
Juan M. Pascual
Keyword(s):  
Mitochondrial Dna ◽  
Fat Metabolism ◽  
Mitochondrial Disorder ◽  
Scientific Investigation ◽  
Resonance Spectroscopy ◽  
Lipid Deposition ◽  
Metabolic Dysfunction ◽  
Intramyocellular Lipid ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Objective:There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation.Methods:To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids.Results:In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity.Conclusions:These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

scholarly journals Linezolid-induced optic neuropathy: a mitochondrial disorder?

2006 ◽  
Vol 91 (1) ◽  
pp. 111-115 ◽  
Author(s):  
M Javaheri ◽  
R N Khurana ◽  
T M O'Hearn ◽  
M M Lai ◽  
A A Sadun
Keyword(s):  
Optic Neuropathy ◽  
Mitochondrial Disorder
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