Oxidation product of fatty acids in the diet, particularly phytanic acid. Phytanic acid is oxidized by alpha oxidation yielding pristanic acid, which is subsequently degraded by peroxisomal beta oxidation. Several inborn errors of metabolism with one or more deficiencies in the phytanic acid and pristanic acid breakdown have been described.
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European journal of pediatrics, 153(7 Suppl 1), S44-S48 (1994-01-01)
Peroxisomal disorders represent a recently recognized group of inherited diseases in man, now comprising 14 different disorders. If discussion is restricted to those peroxisomal disorders in which there is neurological involvement (thereby excluding hyperoxaluria and acatalasaemia), results over the least
Molecular genetics and metabolism, 87(1), 40-47 (2005-11-22)
The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 12(8), 775-783 (2003-08-15)
An enzyme previously identified as alpha-methylacyl-CoA racemase (AMACR) is overexpressed in high-grade prostatic intraepithelial neoplasia and in a majority (60-100%) of prostate cancers (CaPs) as compared with normal and benign hyperplastic lesions of the prostate, where it is minimally expressed.
American journal of human genetics, 78(6), 1046-1052 (2006-05-11)
In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and
Nasz zespół naukowców ma doświadczenie we wszystkich obszarach badań, w tym w naukach przyrodniczych, materiałoznawstwie, syntezie chemicznej, chromatografii, analityce i wielu innych dziedzinach.
