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1989 1
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Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS.
Hegyi T, Ostfeld B, Gardner K. Hegyi T, et al. N J Med. 1992 May;89(5):385-92. N J Med. 1992. PMID: 1635678 Review.
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a potentially fatal genetic defect in fatty acid metabolism and may account for a proportion of all deaths initially attributed to sudden infant death syndrome (SIDS) …
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a potentially fatal geneti …
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
McGregor TL, Berry SA, Dipple KM, Hamid R; COUNCIL ON GENETICS. McGregor TL, et al. Pediatrics. 2021 Jan;147(1):e2020040303. doi: 10.1542/peds.2020-040303. Pediatrics. 2021. PMID: 33372121
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a fatty acid oxidation disorder in which the patient is unable to break down fats to produce energy. This disorder places children at risk for metabolic decompensatio …
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a fatty acid oxidation dis …
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation.
Madsen KL, Preisler N, Orngreen MC, Andersen SP, Olesen JH, Lund AM, Vissing J. Madsen KL, et al. J Clin Endocrinol Metab. 2013 Apr;98(4):1667-75. doi: 10.1210/jc.2012-3791. Epub 2013 Feb 20. J Clin Endocrinol Metab. 2013. PMID: 23426616 Clinical Trial.
BACKGROUND: It is not clear to what extent skeletal muscle is affected in patients with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD). l-Carnitine is commonly used as a supplement in patients with MCADD, although it …
BACKGROUND: It is not clear to what extent skeletal muscle is affected in patients with medium-chain acyl-coenzyme …
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency.
Rinaldo P, Schmidt-Sommerfeld E, Posca AP, Heales SJ, Woolf DA, Leonard JV. Rinaldo P, et al. J Pediatr. 1993 Apr;122(4):580-4. doi: 10.1016/s0022-3476(05)83539-5. J Pediatr. 1993. PMID: 8463904
To assess the relative contribution of glycine and carnitine conjugation pathways to total acyl-group excretion, we investigated the excretion of C6 to C10 dicarboxylic acids, C6 to C8 acylglycines, and C6 to C8 acylcarnitines in five symptom-free patients with medium-c …
To assess the relative contribution of glycine and carnitine conjugation pathways to total acyl-group excretion, we investigated the excreti …
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy.
Schmidt-Sommerfeld E, Penn D, Kerner J, Bieber LL, Rossi TM, Lebenthal E. Schmidt-Sommerfeld E, et al. J Pediatr. 1989 Oct;115(4):577-82. doi: 10.1016/s0022-3476(89)80284-7. J Pediatr. 1989. PMID: 2795349
The employed method detects very low urinary concentrations of octanoylcarnitine and hexanoylcarnitine (less than 1 mumol/L) characteristic of medium-chain acyl-coenzyme A dehydrogenase deficiency and may be useful in screening for …
The employed method detects very low urinary concentrations of octanoylcarnitine and hexanoylcarnitine (less than 1 mumol/L) characteristic …
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support.
Kumar G, Mattke AC, Bowling F, McWhinney A, Alphonso N, Karl TR. Kumar G, et al. World J Pediatr Congenit Heart Surg. 2014 Jan 1;5(1):118-20. doi: 10.1177/2150135113501900. World J Pediatr Congenit Heart Surg. 2014. PMID: 24403369
We report a neonate with medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD) who had a cardiac arrest due to ventricular tachycardia and fibrillation. ...
We report a neonate with medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD) who h …
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.
Christodoulou J, Hoare J, Hammond J, Ip WC, Wilcken B. Christodoulou J, et al. J Pediatr. 1995 Jan;126(1):65-8. doi: 10.1016/s0022-3476(95)70504-x. J Pediatr. 1995. PMID: 7815228
Initial urinary findings indicated the possibility of a defect of fatty acid beta-oxidation; subsequent studies showed that she had medium-chain acyl-coenzyme. A dehydrogenase deficiency. This case highlights the fact that the init …
Initial urinary findings indicated the possibility of a defect of fatty acid beta-oxidation; subsequent studies showed that she had mediu …
11 results