دوره 3، شماره 4 - ( 12-1392 )
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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. J Emerg Health Care 2014; 3 (4)
URL: http://intjmi.com/article-1-87-fa.html
URL: http://intjmi.com/article-1-87-fa.html
A case of 3-hydroxy-3-methyl glutaric CoA lyase deficiency in north of Iran descent. . 1392; 3 (4)
چکیده: (9763 مشاهده)
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.
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