3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report
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چکیده
منابع مشابه
Bacterial metabolism of 3-hydroxy-3-methylglutaric acid.
An organism belonging to Pseudomonadaceae and capable of utilizing 3-hydroxy-3-methylglutarate as sole carbon source has been isolated from soil. Whole-cell preparations catalyze the oxidation of acetoacetate, acetate, glyoxylate, and citric acid cycle intermediates. Cell-free extracts of 3-hydroxy-3-methylglutarate-grown cells show an adenosine triphosphate, coenzyme A (CoA), and Mg(2+)-depend...
متن کاملA neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency
3-hydroxy-3-methylglutaric aciduria (OMIM 246450) is a rare autosomal recessive inborn of metabolism due to the deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase, an enzyme involved both in the ketogenic pathway and leucine catabolism. Acute decompensations present with lethargy, cianosis, hypotonia, vomiting and metabolic acidosis with hypoketotic hypoglycemia. We report the ...
متن کاملPhotodiode array detection for liquid chromatographic profiling of carboxylic acids in physiological fluids: 3-hydroxy-3-methylglutaric aciduria.
3-Hydroxy-3-methylglutaric aciduria was detected in a newborn. The progress of the dietary therapy for the disorder was monitored by dual-column "high-performance" liquid chromatography with a computer-controlled photodiode array spectrophotometric detector. This procedure is a quick way to detect and monitor the progress of 3-hydroxy-3-methylglutaric aciduria.
متن کاملGerminoma Involving Bilateral Basal Ganglia: a Rare Case Report
Received: October 25, 2011; Revised: December 5, 2011; Accepted: December 14, 2011 Corresponding author: Yee-Min Jen, Department of Radiation Oncology, Tri-Service General Hospital, National Defense Medical Center, No. 325, Sec. 2, Cheng-gong Road, Taipei 114, Taiwan, Republic of China. Tel: +886-2-8792-7122; Fax: +886-2-8792-7123; E-mail: [email protected] J Med Sci 2012;32(1):043-046 http:...
متن کاملbilateral traumatic basal ganglia hemorrhage associated with epidural hematoma: case report and literature review
traumatic basal ganglia hematoma is a rare condition defined as presence of hemorrhagic lesions in basal ganglia or adjacent structures suchas internal capsule, putamen and thalamus. bilateral basal ganglia hematoma are among the devastating and rare condition. we herein report a 28-year old man, a victim of car-car accident who was brought to our surgical emergency room by immediate loss of co...
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ژورنال
عنوان ژورنال: Experimental and Therapeutic Medicine
سال: 2016
ISSN: 1792-0981,1792-1015
DOI: 10.3892/etm.2016.3243