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Calcium levulinate medication. A pitfall in the diagnosis of organic acidurias
Insights
Calcium levulinate administration to children resulted in excretion of 4-oxopentanoic and 4-hydroxypentanoic acids. These metabolites may be misidentified as markers for beta-ketothiolase deficiency in certain diagnostic tests.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Metabolic Disorders
Background:
- Beta-ketothiolase deficiency is a rare genetic disorder affecting amino acid metabolism.
- Accurate diagnosis relies on identifying specific organic acids in biological samples.
- Gas chromatography-mass spectrometry (GC-MS) is a common analytical technique for detecting these acids.
Purpose of the Study:
- To investigate the metabolic fate of intravenously administered calcium levulinate in children.
- To determine if calcium levulinate administration produces metabolites that could be confused with markers of beta-ketothiolase deficiency.
- To inform diagnostic interpretations in pediatric metabolic screening.
Main Methods:
- Five children received intravenous calcium levulinate (calcium 4-oxopentanoate).
- Urine samples were collected over a 24-hour period post-administration.
- Excreted metabolites, specifically 4-oxopentanoic acid and 4-hydroxypentanoic acid, were quantified using gas chromatography-mass spectrometry (GC-MS).
Main Results:
- Excretion of 4-oxopentanoic acid ranged from 3.5 to 11.0 mg/24 h.
- Excretion of 4-hydroxypentanoic acid ranged from 4.5 to 10.4 mg/24 h.
- These excreted acids showed structural similarities to those found in beta-ketothiolase deficiency when analyzed by GC-MS.
Conclusions:
- Intravenous calcium levulinate administration leads to the excretion of 4-oxopentanoic and 4-hydroxypentanoic acids in children.
- These metabolites can present as potential false positives in GC-MS analysis for beta-ketothiolase deficiency.
- Clinical laboratories should be aware of this potential diagnostic interference when interpreting results.
Abstract:
Five children, who received calcium levulinate (calcium 4-oxopentanoate) intravenously in pharmacological doses excreted in the following 24-h period both 4-oxopentanoic acid (3.5--11.0 mg/24 h) and 4-hydroxypentanoic acid (4.5--10.4 mg/24 h). Attention is drawn to the fact that in gas chromatographic-mass spectrometric systems these compounds closely resemble the two acids found in children with beta-ketothiolase deficiency.