2.
[Mitochondrial beta-oxidation defects].
Woldseth, B, Rootwelt, T
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 2006;(6):756-9
Abstract
BACKGROUND Mitochondrial beta-oxidation of fatty acids is an important source of energy for the cells, especially during fasting. Since 1973 several inherited defects in beta-oxidation have been described. Defects in mitochondrial beta-oxidation are one of the largest groups of inborn errors of metabolism. MATERIAL AND METHODS This review article is based on the experience of the authors and on literature studies. The authors' experience is from laboratory diagnostics and clinical experience in the departments of medical biochemistry and peadiatrics at our hospital. RESULTS AND INTERPRETATION Beta-oxidation defects are potentially fatal disorders. Symptoms are usually seen during fasting, e.g. during childhood infections. Organs which preferably oxidize fatty acids or ketone bodies are especially vulnerable. Often, but not always, the patients have hypoketotic hypoglycaemia. In addition one can see affection of the liver, heart, muscular and nervous systems. The diseases can manifest both in childhood and adulthood and are often less severe in adulthood. The main principles of symptomatic treatment are avoidance of fasting and regular intake of a low-fat, high-carbohydrate diet. The diagnosis can be difficult to establish, especially in asymptomatic phases.
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Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
Blondon, H, Polivka, M, Joly, F, Flourie, B, Mikol, J, Messing, B
Gastroenterologie clinique et biologique. 2005;(8-9):773-8
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Abstract
We report 3 new cases of Mitochondrial-Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencephalopathy-Intestinal-Pseudoobstruction Syndrome [POLIP]), a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms. A review of the 72 reported cases together with these 3 cases revealed that this condition was associated with (a) a specific cluster of neurological symptoms including leukoencephalopathy (96%), polyneuropathy (96%), ophthalmoplegia (91%) and hearing loss (55%); (b) a CIPO syndrome with the presence of small bowel diverticulae (53%); and (c) mitochondrial cytopathy in 36 of the 37 tested patients (2 of our 3 cases), and thymidine phosphorylase gene mutations in all the 37 tested patients (2 of our cases). The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). In 3 cases, including 2 of our 3 patients, mitochondrial abnormalities were evidenced at the ultrastructural level in digestive smooth muscle demonstrating that the pathogenesis of gastrointestinal involvement was directly related to mitochondrial alterations in digestive smooth muscle cells.