[Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].

Published

Journal Article

UNLABELLED: 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. 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 beta-oxidation.

Full Text

Duke Authors

Cited Authors

  • Rose, M; Matern, D; Millington, DS; Lehnert, W

Published Date

  • September 1999

Published In

Volume / Issue

  • 211 / 5

Start / End Page

  • 413 - 416

PubMed ID

  • 10572901

Pubmed Central ID

  • 10572901

International Standard Serial Number (ISSN)

  • 0300-8630

Digital Object Identifier (DOI)

  • 10.1055/s-2008-1043823

Language

  • ger

Conference Location

  • Germany