C5-OH Acylcarnitine, Quantitative, Random, Urine
Use
The C5-OH Acylcarnitine test is useful for evaluating patients with abnormal newborn screens showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine. Elevated levels of C5-OH in plasma or newborn screening blood spots can indicate several biochemical genetic diagnoses, including 3-methylcrotonylglycinuria, 3-hydroxy 3-methylglutaryl-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-methylglutaconic aciduria, biotinidase deficiency, or holocarboxylase deficiency. Measuring urine C5-OH is particularly useful in differentiating between 3-methylcrotonylglycinuria and 3-methylglutaconic aciduria, as these conditions typically result in larger amounts of C5-OH excretion in urine.
Special Instructions
Not provided.
Limitations
This test might not definitively identify all potential causes of elevated C5-OH levels. It is important for it to be used in conjunction with other clinical evaluations and diagnostic tests to confirm biochemical genetic conditions. Additionally, levels of C5-OH can vary due to a variety of factors, necessitating comprehensive clinical interpretation for accurate diagnosis.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
Not provided
Minimum Volume
Not provided