[Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].
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.
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Related Subject Headings
- Riboflavin
- Pediatrics
- Multiple Organ Failure
- Mass Spectrometry
- Lipid Metabolism, Inborn Errors
- Infant, Newborn
- Humans
- Female
- Fatal Outcome
- Energy Intake
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Riboflavin
- Pediatrics
- Multiple Organ Failure
- Mass Spectrometry
- Lipid Metabolism, Inborn Errors
- Infant, Newborn
- Humans
- Female
- Fatal Outcome
- Energy Intake