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.

Original languageGerman
Pages (from-to)413-416
Number of pages4
JournalKlinische Padiatrie
Volume211
Issue number5
StatePublished - 1999
Externally publishedYes

Fingerprint

Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Carnitine
Tandem Mass Spectrometry
Fatty Acids
Fat-Restricted Diet
Acidosis
Hypoglycemia
Foot
Urine
Newborn Infant
Amino Acids
Acids
Infection

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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.

Untypischer verlauf eines multiplen acyl-CoA-dehydrogenase-defektes. / Rose, Markus; Matern, Dieter; Millington, David S.; Lehnert, Willy.

In: Klinische Padiatrie, Vol. 211, No. 5, 1999, p. 413-416.

Research output: Contribution to journalArticle

Rose, M, Matern, D, Millington, DS & Lehnert, W 1999, 'Untypischer verlauf eines multiplen acyl-CoA-dehydrogenase-defektes', Klinische Padiatrie, vol. 211, no. 5, pp. 413-416.
Rose M, Matern D, Millington DS, Lehnert W. Untypischer verlauf eines multiplen acyl-CoA-dehydrogenase-defektes. Klinische Padiatrie. 1999;211(5):413-416.
Rose, Markus ; Matern, Dieter ; Millington, David S. ; Lehnert, Willy. / Untypischer verlauf eines multiplen acyl-CoA-dehydrogenase-defektes. In: Klinische Padiatrie. 1999 ; Vol. 211, No. 5. pp. 413-416.
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