Untypical case of multiple acyl-CoA-dehydrogenase deficiency

In a female newborn presenting with rapid metabolic deterioration (hypoketo tic hypoglycaemia and acidosis) clinically accompanied by a "sweaty feet"-o dour, the excretion pattern of organic acids in the urine suggested on the fourth day of live multiple acyl-CoA-dehydrogenase-deficiency, a potentiall y lethal autosomal-recessively inherited inborn error of fatty acid beta-ox idation and of the metabolism of certain amino acids. Diagnosis was confirm ed by tandem-mass-spectrometry of acyl-carnitines in blood. Despite the poo r prognosis of neonatal-onset multiple acyl-CoA-dehydrogenase-deficiency, t reatment with carnitine, riboflavine, and a high-energy diet low in fat and high in carbonhydrates resulted in clinical stabilization. The infant surv ived various infection-associated decompensations and developed satisfyingl y up to the age of 15 months, when another metabolic crisis resulted in mul tiorgan failure and death. Discussion: Patients with neonatal-presenting multiple acyl-CoA-dehydrogena se-deficiency but without severe malformations may survive the first months of life. Tandem mass-spectrometry is a suitable tool to differentiate betw een multiple acyl-CoA-dehydrogenase-deficiency and other defects of fatty a cid beta-oxidation.