Fatty oxidation disorders

Fatty Oxidation Disorders (FOD) Family Support Group http www.fodsuppoit.oi mcad fam.htm... [Pg.5]

A method for quantitative acylcamitine profiling in human skin fibroblasts using unlabelled palmitic acid diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. [Pg.9]

Saudubray JM, Mitchell G, Bonnefont JP, Schwartz G, Nuttin C, Munnich A, Brivet M, Vassault A, Demaugre F, Rabier D, et al (1992) Approach to the patient with a fatty acid oxidation disorder. Prog Clin Biol Res 375 271-288... [Pg.53]

Rinaldo P, Yoon HR, Yu C, Raymond K, Tiozzo C, Giordano G (1999) Sudden and unexpected neonatal death a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatal 23 204-210... [Pg.168]

Rinaldo P, Matern D, Bennett MJ (2002) Fatty Acid oxidation disorders. Annu Rev Physiol... [Pg.203]

Millington DS, Terada N, Chace DH, et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res 375 339-354... [Pg.203]

Schmidt-Sommerfeld E, Bobrowski PJ, Penn D, Rhead WJ, Wanders RJA, Bennet MJ (1998) Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders. Pediatr Res 44 210-214... [Pg.204]

Shen JJ, Matern D, Millington DS, et al (2000) Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inherit Metab Dis 23 27-44... [Pg.204]

Roe DS, Yang BZ, Vianey-Saban C, Struys E, Sweetman L, Roe CR (2006) Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab 87 40-47... [Pg.206]

Rinaldo, P, Matem, D., Bennett, MJ. (2002) Fatty acid oxidation disorders. Annu. Rev. Physiol. 64, 477-502. [Pg.653]

Organic Acidurias Fatty Acid Oxidation Disorders Urea Cycle Disorders MSUD NKHG... [Pg.2208]

Figure 55-3 Protocol for the postmortem screening of FAO disorders. (From Rinaldo Matern D, Bennett MJ. Fatty add oxidation disorders. Ann Rev Physiol 2002 64 477-502.)...

Selected fatty add oxidation disorders are discussed in the following sections. [Pg.2232]

Ibdah JA, Beimett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999 340 1723-31. [Pg.2244]

Lundemose JB, Kolvraa S, Gregersen N, Christensen E, Gregersen M. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. Mol Pathol 1997 50 212-7. [Pg.2245]

Rinaldo P. Fatty acid transport and mitochondrial oxidation disorders. Seminars in Liver Disease 2001 21 489-500. [Pg.2246]

Among the fatty acid oxidation disorders, medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is the most common and its frequency is similar to that of phenylketonuria. The disorder can be identified by mutant alleles and some key abnormal metabolites. An A G transition mutation occurs at position 985 of MCAD-cDNA in about 90% of cases. This mutation leads to replacement of lysine with glutamate at position 329 (K329E) of the polypeptide. [Pg.369]

R. G. Boles, E. A. Buck, M. G. Blitzer, et al. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. Journal of Pediatrics 132, 924(1998). [Pg.398]

P. Rinaldo, K. Raymond, A. Al-Odaib, and M. J. Bennett Clinical and biochemical features of fatty acid oxidation disorders. Current Opinion in Pediatrics 10,615 (1998). [Pg.399]

Roc. C. R., and Coates, P, M. 1995. Mitochondrial fatty acid oxidation disorders. In The Metabolic Basis of Inherited Diseases (7th ed., pp. [Pg.647]

Which of the following statements correctly describes ketone bodies They accumulate in children with fatty acid oxidation disorders... [Pg.150]

Roe CR, Ding I. Mitochondrial fatty acid oxidation disorders. In Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York McGraw-HiU, 2001 2297-2326. [Pg.188]

Gregersen N, Andresen BS, Bross P. Prevalent mutations in fatty acid oxidation disorders diagnostic considerations. Eur J Pediatr. 2000 Dec 159 Suppl 3 S213-8. Review. PubMed citation... [Pg.6]

In humans, several genetic disorders of fatty acid catabolism, such as the most common MCAD-deficiency, have been reported but their description falls beyond the scope of this review. Several recent reviews have described many of these diseases and their symptoms in more detail (Longo et al., 2006 Rinaldo et ah, 2002 Wanders and Waterham, 2006 Yang et ah, 2005). For mitochondrial fatty acid oxidation disorders the symptoms often develop at infancy during an episode of increased energy demand such as fasting, exercise or illness. Peroxisomal fatty acid oxidation enzyme deficiencies often involve neuropathy and retinopathy. [Pg.18]

Leone, T. C., Weinheimer, C. J., and Kelly, D. P. A critical role for the peroxisome proliferator-activated receptor alpha (PPARalpha) in the cellular fasting response the PPARalpha-null mouse as a model of fatty acid oxidation disorders. Proc Natl Acad Sci U S A 96 (1999) 7473-7478. [Pg.41]

Big Chemical Encyclopedia

Chemical substances, components, reactions, process design ...