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 contribution | Untypical case of multiple acyl-CoA-dehydrogenase deficiency |
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Original language | German |
Pages (from-to) | 413-416 |
Number of pages | 4 |
Journal | Klinische Padiatrie |
Volume | 211 |
Issue number | 5 |
DOIs | |
State | Published - 1999 |
Keywords
- Deficiency
- Gas- chromatography
- Mass
- Mass-spectrometry
- Multiple acyl-CoA-dehydrogenase/
- Spectrometry
- Tandem
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health