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Assessment of glycerol phenylbutyrate as a chaperone in the treatment of patients with MCAD deficiency caused by the common 985 A>G (K304E) mutation

Assessment of glycerol phenylbutyrate as a chaperone in the treatment of patients with MCAD deficiency caused by the common 985 A>G (K304E) mutation Authors: RaeLynn Forsyth, BA, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA Gerard Vockley, MD, PhD, Children’s Hospital of Pittsburgh of UPMC, [...]

By |2018-12-26T14:52:36+00:00December 26th, 2018|

Disruption of brain and liver mitochondrial function caused by cis-4-decenoic and decanoic acids but not by octanoylcarnitine and decanoylcarnitine: is L-carnitine supplementation protective to MCAD deficient patients?

Disruption of brain and liver mitochondrial function caused by cis-4-decenoic and decanoic acids but not by octanoylcarnitine and decanoylcarnitine: is L-carnitine supplementation protective to MCAD deficient patients? Moacir Wajner 1,2*, Cristiane Cecatto1, Janaína Camacho da Silva1, Alessandro Wajner1, Kálita dos Santos Godoy1, Rafael Teixeira Ribeiro1, Alexandre [...]

By |2018-12-26T14:51:59+00:00December 26th, 2018|

Experimental evidence that monocarboxylic long-chain hydroxy fatty acids accumulating in MTP and LCHAD deficiencies markedly disrupt mitochondrial bioenergetics in rat skeletal muscle

Experimental evidence that monocarboxylic long-chain hydroxy fatty acids accumulating in MTP and LCHAD deficiencies markedly disrupt mitochondrial bioenergetics in rat skeletal muscle Alexandre Umpierrez Amaral1*, Cristiane Cecatto1, Kálita dos Santos Godoy1 Ana Paula de Abreu Lopes1, Janaína Camacho da Silva1, Moacir Wajner1,2 1Departamento de Bioquímica, Instituto [...]

By |2018-12-26T14:51:18+00:00December 26th, 2018|

Dilated Cardiyomyopathy Due to Primary Carnitine Deficiency: A Real Life Case Study

Dilated Cardiyomyopathy Due to Primary Carnitine Deficiency: A Real Life Case Study Ali Kanık, MD1, Marta Frigeni, MD2 , Kayı Eliaçık, MD1, Ali Rahmi Bakiler, MD1,Tijen Tanyalcin, MD PhD3 Mei Baker, MD FACMG4, Nicola Longo, MD PhD2 1Izmir Tepecik Teaching and Research Hospital, Department of Pediatrics, [...]

By |2018-12-26T14:50:41+00:00December 26th, 2018|

Normal insulin sensitivity in a patient with very long-chain acylCoA dehydrogenase (VLCAD) deficiency during a hyperinsulinemic-euglycemic clamp (HEC) with an intralipid Infusion

Normal insulin sensitivity in a patient with very long-chain acylCoA dehydrogenase (VLCAD) deficiency during a hyperinsulinemic-euglycemic clamp (HEC) with an intralipid Infusion Melanie B. Gillingham1, PhD, Julie M. Martin1, MS, Eric Baetscher, BS2, William Rooney PhD2, Cary O. Harding, MD1, Jonathan Q. Purnell, MD3 1Department of [...]

By |2018-12-26T14:50:03+00:00December 26th, 2018|

EXPRESSION OF NOVEL MUTATIONS IN THE CARNITNE TRANSPORTER FROM PATIENTS WITH PRIMARY CARNITINE DEFICIENCY.

EXPRESSION OF NOVEL MUTATIONS IN THE CARNITNE TRANSPORTER FROM PATIENTS WITH PRIMARY CARNITINE DEFICIENCY. Frigeni M1, Balakrishnan B1, Yin X1, Pasquali M1,2,3, Longo N1,2,3. 1Dept Pediatrics, 2Pathology, and 3ARUP Laboratories, University of Utah, Salt Lake City, UT, USA. Email: Marta.Frigeni@hsc.utah.edu Phone: 801-585-9558 Primary carnitine [...]

By |2018-12-26T14:49:15+00:00December 26th, 2018|

Outcomes of infants with positive newborn screens for VLCAD deficiency in Southern Alberta

Outcomes of infants with positive newborn screens for VLCAD deficiency in Southern Alberta Marisa Chard  (a,c) , Karen Sabo (a) , Aneal Khan (a,b,c) , Rebecca Sparkes (a,b,c) a. Alberta Children’s Hospital, Calgary, Alberta, Canada b. Dept. of Pediatrics, University of Calgary, Alberta, Canada c. Dept. [...]

By |2018-12-26T14:48:35+00:00December 26th, 2018|

SHORT TERM OUTCOME OF LCHAD DEFICIENCY IDENTIFIED BY NEWBORN SCREENING.

SHORT TERM OUTCOME OF LCHAD DEFICIENCY IDENTIFIED BY NEWBORN SCREENING. Alvaro Serrano Russi MD1 1Stead Department of Pediatrics; Division of Medical Genetics; University of Iowa, Iowa City, IA, USA E-mail: Alvaro-serranorussi@uiowa.edu Phone: 319-356-2674 Patient was born at 38 weeks gestation with a birth weight [...]

By |2018-12-26T14:47:15+00:00December 26th, 2018|

Nutritional management of Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)

Nutritional management of Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Ashleigh Mitchell1, Sue Thompson1, Sarah Slack1, Kaustuv Bhattacharya2 1 Department of Nutrition and Dietetics, The Children’s Hospital Westmead, Sydney, Australia 2 Genetic Metabolic Disorders Service, The Children’s Hospital Westmead, Sydney, Australia Corresponding author contact information: Ashleigh [...]

By |2018-12-26T14:46:32+00:00December 26th, 2018|

Different clinical phenotypes warrant tailor made diets in patients with long chain fatty acid oxidation disorders

Different clinical phenotypes warrant tailor made diets in patients with long chain fatty acid oxidation disorders Irene L. Kok, RD1,2, Jeannette C. Bleeker, MD2,3, Sacha F. Ferdinandusse, PhD3, Gepke Visser, MD PhD2 1Department of Internal Medicine and Dermatology, Dietetics, Wilhelmina Children’s Hospital, UMCU, Utrecht 2Department of [...]

By |2018-12-26T14:43:31+00:00December 26th, 2018|