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The urinary excretion of ethylmalonic acid: what level requires further attention?
Insights
Increased ethylmalonic acid excretion in children may not require further investigation unless accompanied by other organic acidurias. This finding aids in prioritizing diagnostic follow-ups for inherited metabolic diseases.
Area of Science:
- Biochemistry
- Clinical Chemistry
- Pediatric Medicine
Background:
- Ethylmalonic acid is an organic acid found in urine.
- Its significance in inherited metabolic diseases is not fully understood.
- Screening for metabolic disorders often involves analyzing urinary organic acids.
Purpose of the Study:
- To investigate the urinary excretion of ethylmalonic acid in pediatric patients.
- To determine the clinical relevance of elevated ethylmalonic acid levels.
- To establish criteria for follow-up investigations in cases of abnormal ethylmalonic acid excretion.
Main Methods:
- Urinary samples from children undergoing screening for inherited metabolic diseases were analyzed.
- Ethylmalonic acid excretion levels were quantified.
- Longitudinal studies were conducted on two selected patients.
Main Results:
- Elevated ethylmalonic acid excretion was detected in 20 out of 5000 screened children.
- The increased excretion levels were generally modest.
- No clear origin for ethylmalonic acid was identified in longitudinal studies.
Conclusions:
- Abnormal ethylmalonic acid excretion alone is not a strong indicator of significant inherited metabolic disease.
- Follow-up investigations are recommended primarily when large amounts of other organic acids, such as dicarboxylic acids, are also present.
- This approach helps to focus diagnostic resources on more critical cases.
Abstract:
The urinary excretion of ethylmalonic acid was studied in various patients, including children with glutaric aciduria type II and with beta-ketothiolase deficiency. An increased excretion at a modest level was found in 20 out of 5000 children who were referred for screening of inherited metabolic disease. Two children were studied longitudinally, but no clue to the origin of ethylmalonic acid was found in these cases. It is concluded that follow-up investigation of abnormal ethylmalonic acid excretion is only indicated when additional organic acids such as dicarboxylic acids are excreted in large amounts.