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:: Volume 3, Issue 4 (december 2014) ::
Int J Med Invest 2014, 3(4): 0-0 Back to browse issues page
A case of 3-hydroxy-3-methyl glutaric CoA lyase deficiency in north of Iran descent
Daniel Zamanfar * , Seyyed Abbas Hashemi , Morteza Alijanpour
Abstract:   (9213 Views)
The HMG-CoA lyase (HL) deficiency or 3-hydroxy-3-methylglutaric aciduria (MIM 246450) is a metabolic disease that is an inborn error of intermediary metabolism for the first time described in 1976. In this article we reported the clinical signs and symptoms and related lab test of this case to improve our knowledge. In this article our case was presented with persistent vomiting from a day before admission and oliguria. But this patient had three history of admission due to pneumonia at 5 month, hypoglycemia at 7 month and acidosis at 8 month of age.
Keywords: HMG-CoA lyase (HL) deficiency, metabolic disease
Full-Text [PDF 250 kb]   (2480 Downloads)    
Type of Study: case report | Subject: General
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Zamanfar D, Hashemi S A, Alijanpour M. A case of 3-hydroxy-3-methyl glutaric CoA lyase deficiency in north of Iran descent. Int J Med Invest 2014; 3 (4)
URL: http://intjmi.com/article-1-87-en.html


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Volume 3, Issue 4 (december 2014) Back to browse issues page
International Journal of Medical Investigation
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