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Short-chain acyl-CoA dehydrogenase SCAD

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency has been recorded in only a few patients and these show wide variation in clinical presentation. The defect has been seen in infants with a syndrome of psychomotor retardation and failure to thrive. These infants showed abnormal organic aciduria, and drastically decreased SCAD activity was demonstrable in cultured fibroblasts. Muscle symptoms were only part of a wider syndrome in all infants and children so far reported to have SCAD deficiency, but were the sole presenting feature in two adult patients, in whom lipid storage was demonstrable in skeletal muscle. The gene encoding for human SCAD has been mapped to chromosome 12. [Pg.306]

Fig. 3.2.3 Profiles of acylcarnitines as their butyl esters in plasma (precursor of m/z 85 scan) of a normal control (a) and three patients with elevated Gi-acyl carnitine (m/z 288 peak 4) that represents primarily butyrylcarnitine in a patient with short-chain acyl-CoA dehydrogenase (SCAD) deficiency (b), isobutyrylcarnitine in a patient with isobutyryl-CoA dehydrogenase (IBDH) deficiency (c), and a natural isotope of formiminoglutamate (FIGLU m/z 287 peak 3) in a patient with glutamate formimino-transferase deficiency (d). Peak 1 free carnitine (m/z 218), peak 2 acetylcarnitine (C2 m/z 260). The asterisks represent the internal standards (from left to right) d3-acetylcarnitine (C2 m/z 263), d3-propionylcarnitine (C3 m/z 277), d3-butyrylcarnitine (C4 m/z 291), d3-octanoylcarnitine (C8 m/z 347), d3-dodecanoylcarnitine (Ci, m/z 403), and d3-pal-mitoylcarnitine (Ci6 m/z 459)... Fig. 3.2.3 Profiles of acylcarnitines as their butyl esters in plasma (precursor of m/z 85 scan) of a normal control (a) and three patients with elevated Gi-acyl carnitine (m/z 288 peak 4) that represents primarily butyrylcarnitine in a patient with short-chain acyl-CoA dehydrogenase (SCAD) deficiency (b), isobutyrylcarnitine in a patient with isobutyryl-CoA dehydrogenase (IBDH) deficiency (c), and a natural isotope of formiminoglutamate (FIGLU m/z 287 peak 3) in a patient with glutamate formimino-transferase deficiency (d). Peak 1 free carnitine (m/z 218), peak 2 acetylcarnitine (C2 m/z 260). The asterisks represent the internal standards (from left to right) d3-acetylcarnitine (C2 m/z 263), d3-propionylcarnitine (C3 m/z 277), d3-butyrylcarnitine (C4 m/z 291), d3-octanoylcarnitine (C8 m/z 347), d3-dodecanoylcarnitine (Ci, m/z 403), and d3-pal-mitoylcarnitine (Ci6 m/z 459)...
Bolund L, Bartlett K, et al. Misfolding, degradation and aggregation of variant proteins—the molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J Biol Chem 2003 278 ... [Pg.2246]

The analysis of samples from patients suffering from various defects in mitochondrial beta-oxidation shows, in each case, a characteristic acyl-camitine profile in which the specific accumulation of acyl-camitine species can be observed. For instance, in short-chain acyl-CoA dehydrogenase (SCAD) deficiency there is a specific accumulation of... [Pg.329]

Short-chain acyl-CoA dehydrogenase SCAD FB, WBC, liver, muscle 12q22-ter 201470... [Pg.313]

PLA phospholipase A SCAD short chain acyl-CoA dehydrogenase... [Pg.966]

Dienoyl-CoA reductase deficiency Short-chain fatty acid (<6 carbons) oxidation disorders Short-chain acyl-CoA dehydrogenase deficiency (SCAD)... [Pg.272]

Acyl-CoA dehydrogenases (ACADs), flavoproteins found in the mitochondria, are involved in /3-oxidation of fatty acids. Currently, there are five types of ACADs classified according to substrate specificity. Short-chain ACAD (SCAD), medium-chain ACAD (MCAD), long-chain ACAD (LCAD), and very long-chain ACAD... [Pg.58]

See other pages where Short-chain acyl-CoA dehydrogenase SCAD is mentioned: [Pg.184]    [Pg.2236]    [Pg.2244]    [Pg.327]    [Pg.396]    [Pg.400]    [Pg.402]    [Pg.650]    [Pg.309]    [Pg.327]    [Pg.395]    [Pg.396]    [Pg.402]    [Pg.364]    [Pg.184]    [Pg.2236]    [Pg.2244]    [Pg.327]    [Pg.396]    [Pg.400]    [Pg.402]    [Pg.650]    [Pg.309]    [Pg.327]    [Pg.395]    [Pg.396]    [Pg.402]    [Pg.364]    [Pg.2]    [Pg.174]    [Pg.272]    [Pg.4]    [Pg.701]    [Pg.15]    [Pg.178]    [Pg.395]    [Pg.178]    [Pg.304]    [Pg.638]    [Pg.3]    [Pg.638]    [Pg.399]    [Pg.399]   
See also in sourсe #XX -- [ Pg.618 ]



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Acyl dehydrogenase

Acyl-CoA

Acyl-CoA dehydrogenase

Acyl-CoA dehydrogenases

Scads

Short chain

Short-Chain Dehydrogenases

Short-chain acyl-CoA dehydrogenase

Short-chain dehydrogenase

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