Multiple acyl CoA dehydrogenase deficiency

Glutaric aciduria type II, which is a defect of P-oxida-tion, may affect muscle exclusively or in conjunction with other tissues. Glutaric aciduria type II, also termed multiple acyl-CoA dehydrogenase deficiency (Fig. 42-2), usually causes respiratory distress, hypoglycemia, hyperammonemia, systemic carnitine deficiency, nonketotic metabolic acidosis in the neonatal period and death within the first week. A few patients with onset in childhood or adult life showed lipid-storage myopathy, with weakness or premature fatigue [4]. Short-chain acyl-CoA deficiency (Fig. 42-2) was described in one woman with proximal limb weakness and exercise intolerance. Muscle biopsy showed marked accumulation of lipid droplets. Although... 

Table 3.2.5 Disorders detectable by the in vitro probe assay. ETF Electron transfer flavoprotein, MADD multiple acyl-CoA dehydrogenase deficiency...

Papadimitriou A, Servidei S. Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate. Neuromuscul Disord 1991 l(4) 247-52. 

In this study, the analysis of plasma samples from patients suffering from fatty acid oxidation defects or organic acidemias (n = 103) showed abnormal acyl-camitine profiles in all cases when the samples were taken under stress (e.g. hypoglycemic episodes). In clinically stable episodes an essentially normal acyl-camitine profile was obtained for only one patient with a mild form of SCAD deficiency and for a patient with a mild form of multiple acyl-CoA dehydrogenase deficiency (data not shown). For all other defects abnormal profiles were observed under a wide variety of clinical conditions illustrating the high sensitivity of the method. In table 2, the upper reference limit, defined as the... 

Glutaric aciduria, type 2 (GAII) or multiple acyl-CoA dehydrogenase deficiency (MADD)... 

Gianazza, E., Vergani, L., Wait, R., Brizio, C., Brambilla, D., Begum, S., Giancaspero, T.A., Conserva, F., Eberini, I., Bufano, D., Angelini, C., Pegoraro, E., Tramontano, A., and Barile, M., 2006. Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient. Electrophoresis. 27 1182-1198. 

Table 14.1 Urinary organic acids in patients with neonatal multiple acyl-CoA dehydrogenase deficiences ( glutaric aciduria type IF).

The dissimilarity of these patients from those with apparent multiple acyl-CoA dehydrogenase deficiency (Section 14.2.1) and other dicarboxylic acidurias is noticeable and the primary defect remains unknown. 

Goodman, S.I., McCabe, E.R.B., Fennessey, P.V. and Mace, J.W. (1980), Multiple acyl-CoA dehydrogenase deficiency (Glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria Possible inherited deficiency of an electron transfer flavoprotein. Pediatr. Res., 14,12. 

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