[Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].
In a female newborn presenting with rapid metabolic deterioration (hypoketotic hypoglycaemia and acidosis) clinically accompanied by a "sweaty feet"-odour, the excretion pattern of organic acids in the urine suggested on the fourth day of live multiple acyl-CoA-dehydrogenase-deficiency, a potentially lethal autosomal-recessively inherited inborn error of fatty acid beta-oxidation and of the metabolism of certain amino acids. Diagnosis was confirmed by tandem-mass-spectrometry of acyl-carnitines in blood. Despite the poor prognosis of neonatal-onset multiple acyl-CoA-dehydrogenase-deficiency, treatment with carnitine, riboflavine, and a high-energy diet low in fat and high in carbonhydrates resulted in clinical stabilization. The infant survived various infection-associated decompensations and developed satisfyingly up to the age of 15 months, when another metabolic crisis resulted in multiorgan failure and death.


CONCLUSIONS
Patients with neonatal-presenting multiple acyl-CoA-dehydrogenase-deficiency but without severe malformations may survive the first months of life. Tandem mass-spectrometry is a suitable tool to differentiate between multiple acyl-CoA-dehydrogenase-deficiency and other defects of fatty acid beta-oxidation.
Rose
M
M
Abteilung für Kinderheilkunde, Johanniter Kinderklinik, St. Augustin, Deutschland.
Matern
D
D
Millington
D S
DS
Lehnert
W
W
D000108:Acetylcarnitine / Q000097:blood; D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy*; D002331:Carnitine / Q000008:administration & dosage; D003937:Diagnosis, Differential; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D004041:Dietary Fats / Q000008:administration & dosage; D002149:Energy Intake; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy*; D013058:Mass Spectrometry; D009102:Multiple Organ Failure / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D012256:Riboflavin / Q000008:administration & dosage
D004040:Dietary Carbohydrates; D004041:Dietary Fats; D000108:Acetylcarnitine; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine; D012256:Riboflavin