BACKGROUND: Mitochondrial beta oxidation plays a major role in energy production. Long chain fatty acid oxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase enzyme (LCHAD). These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes disease), hypoketotic hypoglycaemia, rhabdomyolysis, myopathy, cardiomyopathy and with late complications such as peripheral neuropathy, pigmentary retinopathy, retinal degeneration and progressive visual loss. The correct diagnosis at presentation is not only life saving but also allows for the appropriate dietary and other intervention, which may have major effects on outcome. AIM: Three case reports of patients with long chain fatty acid oxidation defects who have shown significant benefits from treatment are reported. CONCLUSIONS: These paediatric presentations illustrate the clinical heterogeneity of long chain fatty acid oxidation defects and opportunities for effective management if correctly diagnosed.
BACKGROUND: Mitochondrial beta oxidation plays a major role in energy production. Long chain fatty acidoxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase enzyme (LCHAD). These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes disease), hypoketotic hypoglycaemia, rhabdomyolysis, myopathy, cardiomyopathy and with late complications such as peripheral neuropathy, pigmentary retinopathy, retinal degeneration and progressive visual loss. The correct diagnosis at presentation is not only life saving but also allows for the appropriate dietary and other intervention, which may have major effects on outcome. AIM: Three case reports of patients with long chain fatty acidoxidation defects who have shown significant benefits from treatment are reported. CONCLUSIONS: These paediatric presentations illustrate the clinical heterogeneity of long chain fatty acidoxidation defects and opportunities for effective management if correctly diagnosed.
Authors: C O Harding; M B Gillingham; S C van Calcar; J A Wolff; J N Verhoeve; M D Mills Journal: J Inherit Metab Dis Date: 1999-05 Impact factor: 4.982
Authors: S E Olpin; S Clark; B S Andresen; C Bischoff; R K J Olsen; N Gregersen; A Chakrapani; M Downing; N J Manning; M Sharrard; J R Bonham; F Muntoni; D N Turnbull; M Pourfarzam Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982
Authors: T Tyni; A Palotie; L Viinikka; L Valanne; M K Salo; U von Döbeln; S Jackson; R Wanders; N Venizelos; H Pihko Journal: J Pediatr Date: 1997-01 Impact factor: 4.406
Authors: Margarethe E J den Boer; Ronald J A Wanders; Andrew A M Morris; Lodewijk IJlst; Hugo S A Heymans; Frits A Wijburg Journal: Pediatrics Date: 2002-01 Impact factor: 7.124
Authors: R G Boles; E A Buck; M G Blitzer; M S Platt; T M Cowan; S K Martin; H Yoon; J A Madsen; M Reyes-Mugica; P Rinaldo Journal: J Pediatr Date: 1998-06 Impact factor: 4.406
Authors: Melanie B Gillingham; William E Connor; Dietrich Matern; Piero Rinaldo; Terry Burlingame; Kaatje Meeuws; Cary O Harding Journal: Mol Genet Metab Date: 2003-06 Impact factor: 4.797
Authors: William A Taylor; Edgard M Mejia; Ryan W Mitchell; Patrick C Choy; Genevieve C Sparagna; Grant M Hatch Journal: PLoS One Date: 2012-11-09 Impact factor: 3.240