Journal of Emergency Health Care
Formerly known as: International Journal of Medical Investigation
Volume 3, Issue 4 (december 2014)
J Emerg Health Care 2014, 3(4): 0-0 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
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-en.html
URL: http://intjmi.com/article-1-87-en.html
Abstract: (9798 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
Type of Study: case report |
Subject:
General
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |