Short-chain acyl-CoA dehydrogenase

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. 

PLA phospholipase A SCAD short chain acyl-CoA dehydrogenase... 

This enzyme [EC 1.3.99.2], also referred to as short-chain acyl-CoA dehydrogenase and unsaturated acyl-CoA reductase, catalyzes the reaction of butanoyl-CoA and an electron-transferring fiavoprotein to produce... 

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)...

Young SP, Matern D, Gregersen N, et al (2003) A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta 337 103-113... 

As many as 1 in 10,000 persons may inherit such prob-lems.48 50a Tire proteins that may be defective include a plasma membrane carnitine transporter carnitine palmitoyltransferases camitine/acylcamitine trans-locase long-chain, medium-chain, and short-chain acyl-CoA dehydrogenases 2,4-dienoyl-CoA reductase (Eq. 17-1) and long-chain 3-hydroxyacyl-CoA dehydrogenase. Some of these are indicated in Fig. 17-2. 

Poulsen TD, M Garcia-Viloca, JL Gao, DG Truhlar (2003) Free energy surface, reaction paths, and kinetic isotope effect of short-chain Acyl-CoA dehydrogenase. J. Phys. Chem. B 107 (35) 9567-9578... 

Figure 55-14 Plasma profiles of plasma acylcarnitine butyl-ester derivatives. A, Normal control. B, Propionic acidemia. C, Short-chain acyl-CoA dehydrogenase deficiency. D, Isovaleric acidemia. E, Medium-chain acyl-CoA dehydrogenase deficiency. F, Very long-chain acyl-CoA dehydrogenase deficiency. G, Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.The symbol marks internal standards [ Hjj-acetylcarnitine (m/z 263) [ HaJ-propionylcarnitine (m/z 277) fH ]-butyrylcarnitlne (m/z 295) pHal-octanoylcarnitine (m/z 347) [ Haj-dodecanoylcarnltine (m/z 403) [ Haj-palmitoy I carnitine (m/z 459).

Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. The emerging clinical and biochemical picture of short-chain acyl-CoA dehydrogenase deficiency. J Pediatr 1995 126 910-5. 

KJeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001 49 18-23. 

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 ... 

Turnbull DM, Bartlett K, Stevens DL, Alberti KG, Gibson GJ, Johnson MA, et al. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N Engl J Med 1984 311 1232-6. 

Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matem D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab. 2003 Apr 78(4) 239-46. PubMed citation... 

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. 

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