Untypischer verlauf eines multiplen acyl-CoA-dehydrogenase-defektes

Translated title of the contribution: Untypical case of multiple acyl-CoA-dehydrogenase deficiency

Markus Rose, Dieter Matern, David S. Millington, Willy Lehnert

Research output: Contribution to journalArticle

Abstract

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 β-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. Discussion: 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 β-oxidation.

Translated title of the contributionUntypical case of multiple acyl-CoA-dehydrogenase deficiency
Original languageGerman
Pages (from-to)413-416
Number of pages4
JournalKlinische Padiatrie
Volume211
Issue number5
StatePublished - Nov 4 1999

Keywords

  • Deficiency
  • Gas- chromatography
  • Mass
  • Mass-spectrometry
  • Multiple acyl-CoA-dehydrogenase/
  • Spectrometry
  • Tandem

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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  • Cite this

    Rose, M., Matern, D., Millington, D. S., & Lehnert, W. (1999). Untypischer verlauf eines multiplen acyl-CoA-dehydrogenase-defektes. Klinische Padiatrie, 211(5), 413-416.