Glutaric aciduria type 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... 

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

Biotinidase deficiency Folinic acid-responsive seizures Glutaric aciduria type 1 Homocystinuria HyperphenyManinemia due to disorders of biopterin Methylmalonic aciduria Maple syrup urine disease (MSUD) Multiple carboxylase deficiency OAT... 

Glutaric aciduria type III (glutaryl-CoA oxidase deficiency)... 

One particular case of such pathological conditions is multiple acyl-CoA dehydrogenation deficiency (MADD) or glutaric aciduria type-II, a rare disease arising from defects in either ETF or ETF QO. In this condition, vitamin B2 supplementation has in some cases been successfully employed for the treatment of this fatty add oxidation (FAO) disorder. However, the molecular rational for the benefidal eflect of riboflavin supplementation is not fully clearly defined and the reason why only some MADD patients are responsive to riboflavin whereas others are not remains as one of the key challenging issues in the field (Gregersen et al. 1990 Olsen et al. 2007). 

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

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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