Systemic Correction of a Fatty Acid Oxidation Defect by Intramuscular Injection of a Recombinant Adeno-Associated Virus Vector

2006 ◽  
Vol 17 (1) ◽  
pp. 71-80 ◽  
Author(s):  
Thomas J. Conlon ◽  
Glenn Walter ◽  
Renius Owen ◽  
Travis Cossette ◽  
Kirsten Erger ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Intramuscular Injection ◽  
Virus Vector ◽  
Acid Oxidation ◽  
Adeno Associated Virus ◽  
Fatty Acid Oxidation Defect

Systemic Correction of a Fatty Acid Oxidation Defect by Intramuscular Injection of a Recombinant Adeno-Associated Virus Vector

2005 ◽  
Vol 0 (0) ◽  
pp. 051214070249001
Author(s):  
Thomas J. Conlon ◽  
Glenn Walter ◽  
Renius Owen ◽  
Travis Cossette ◽  
Kirsten Erger ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Intramuscular Injection ◽  
Virus Vector ◽  
Acid Oxidation ◽  
Adeno Associated Virus ◽  
Fatty Acid Oxidation Defect

Biliary Atresia Associated With a Fatty Acid Oxidation Defect

2002 ◽  
Vol 35 (5) ◽  
pp. 624-628 ◽  
Author(s):  
Randolph P. Matthews ◽  
Pierre Russo ◽  
Gerard T. Berry ◽  
David A. Piccoli ◽  
Elizabeth B. Rand
Keyword(s):  
Fatty Acid ◽  
Biliary Atresia ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Defect

Cardiomyopathy in infancy and postmortem di diagnosis of a fatty acid oxidation defect

1995 ◽  
Vol 28 (3) ◽  
pp. 324 ◽  
Author(s):  
L.E. Seargeant ◽  
S. Phillips ◽  
L.A. Dilling ◽  
N. Giddins ◽  
C.R. Roe ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Defect

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients

2020 ◽  
Author(s):  
Irene J. Hoogeveen ◽  
Tessa van Amerongen ◽  
Frouke J. Weynschenk ◽  
Charlotte M. A. Lubout ◽  
Foekje de Boer ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Glycogen Storage Disease ◽  
Inborn Errors Of Metabolism ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Hepatic Glycogen ◽  
Inborn Errors ◽  
Fatty Acid Oxidation Defect

Abstract Background - Patients with inborn errors of metabolism causing fasting intolerance are at risk of acute metabolic decompensations. Disease specific emergency protocols are widely available, but long-term data on safety and efficacy outcomes are lacking. We hypothesized that a generic emergency protocol can be safe and effective in patients with inborn errors of metabolism causing fasting intolerance. Results - We retrospectively evaluated our generic emergency protocol in 128 patients with a hepatic glycogen storage disease or fatty acid oxidation defect between February 1, 2014 and April 24, 2019. In total, 127 hospital admissions were documented in 54 out of 128 patients (42%). Hypoglycemia (glucose concentration <3.9 mmol/l) was reported in 15% of admissions. Hypoglycemia at admission was uncommon in patients with ketotic glycogen storage disease and verbal patients with a fatty acid oxidation defect. Convulsions, coma or death were not reported. Conclusions - Generic emergency protocols can be safe and effective for home management by the caregivers and the first hour in-hospital management of metabolic emergencies in patients with hepatic glycogen storage disease and medium-chain Acyl CoA dehydrogenase deficiency.

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