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Profiles of acylcarnitines as their butyrl esters in plasma (precursor of m/z 85scan) of a normal control A. and patients with various fatty acid β-oxidation.

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Presentation on theme: "Profiles of acylcarnitines as their butyrl esters in plasma (precursor of m/z 85scan) of a normal control A. and patients with various fatty acid β-oxidation."— Presentation transcript:

1 Profiles of acylcarnitines as their butyrl esters in plasma (precursor of m/z 85scan) of a normal control A. and patients with various fatty acid β-oxidation disorders. Asterisks indicate the relevant acylcarnitine species. B. Typical profile of a patient with MCAD deficiency in which octanoylcarnitine (*C8 where the * indicates the stable isotope labeled standard; m/z 344) is greater than both hexanoylcarnitine (*C6; m/z 316) and decenoylcarnitine (*C10:1; m/z 370). C. Typical VLCAD deficiency profile revealing elevated tetradecenoylcarnitine (*C14:1; m/z 426) as well as other long-chain acylcarnitine species (*C16, m/z 456; *C18:1, m/z 482). D. CPT II and CACT deficiencies are indistinguishable by acylcarnitine analysis and are characterized by accumulation of hexadecanoyl- and octadecenoylcarnitines (*C16; m/z 456; *C18:1; m/z 482, respectively). E. Patients with LCHAD/TFP deficiency typically present elevations of long-chain 3-hydroxy species such as 3-hydroxyhexadecenoyl,3-hydroxy hexadecanoyl-, 3-hydroxy octadecenoyl-, and 3-hydroxy octadecanoylcarnitine species (*C16:1-OH, m/z 470, *C16-OH, m/z 472; *C18:1-OH, m/z 498, *C18-OH, m/z 500) as well as tetradecenoylcarnitine (*C14:1, m/z 426). The bold number adjacent to or above each peak indicates the m/z ratio for free carnitine (m/z 218) or the internal standards: m/z 263, D3-acetylcarnitine (C2); m/z 277,D3-propionylcarnitine (C3); m/z 291, D3-butyrylcarnitine (C4); m/z 347, D3-octanoylcarnitine (C8); m/z 403, D3-dodecanoylcarnitine (C12); m/z 459, D3-palmitoylcarnitine (C16). Adapted from (268). Source: Mitochondrial Fatty Acid Oxidation Disorders, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 03, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved


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