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Inherited Metabolic Disorders Markers
€ 80,00
Advanced Diagnostic Marker Panel
Screens for metabolic disorders caused by genetic enzyme deficiencies.
Beschrijving
What Are Inherited Metabolic Disorders
Inherited Metabolic Disorders (IMDs), also known as inborn errors of metabolism, are a group of rare but often serious genetic conditions caused by enzyme deficiencies that disrupt normal metabolic pathways. These disruptions can lead to the toxic buildup of intermediates or deficiency of essential compounds. Clinical presentation varies from mild developmental delay to life-threatening metabolic crises.
Laboratory testing plays a vital role in the diagnosis and monitoring of IMDs, especially since many are not included in standard newborn screening panels. This comprehensive test uses urine organic acids and related metabolites to support the detection of both classic and emerging metabolic disorders using targeted metabolomics.
Included Biomarkers & Their Significance
| Marker | Clinical Significance |
|---|---|
| 3-Hydroxypropionic acid | Elevated in propionic acidemia, methylmalonic aciduria, and biotinidase deficiency; linked to mitochondrial CoA imbalance |
| 3-Methylcrotonyl glycine | Marker of leucine catabolism defects; seen in fatty acid oxidation disorders and mitochondrial encephalomyopathy |
| 2-Hydroxyglutaric acid | Elevated in 2-hydroxyglutaric aciduria, a rare neurometabolic disorder |
| Alpha-ketobutyric acid | Related to threonine and methionine metabolism; linked to glutathione synthesis and vitamin B3 status |
| Hexanoyl glycine | Marker for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and gamma radiation exposure |
| Mevalonic acid | Elevated in mevalonate kinase deficiency (MKD), a cause of periodic fever syndromes |
| Propionylglycine | Elevated in propionic acidemia, a severe defect in propionyl-CoA carboxylase |
| Suberyl glycine | Seen in C6–C10 dicarboxylic acidurias; associated with lethargy and hypoglycemia episodes |
| Tiglylglycine | Moderately elevated in mitochondrial respiratory chain disorders; associated with toxic exposure |
| Succinylacetone | Diagnostic for tyrosinemia type I; also used to monitor treatment response |
| Isovalerylglycine (IVG) | Elevated in isovaleric acidemia (leucine metabolism); a marker for beta-oxidation dysfunction |
When to Consider This Panel
- Developmental delay or regression
- Persistent metabolic acidosis or ketosis
- Unexplained seizures or encephalopathy
- Suspicion of mitochondrial or amino acid disorders
- Family history of metabolic disease
- Abnormal newborn screen requiring follow-up
Test Details
- Sample Type: First morning urine
- Turnaround Time: 3 to 7 business days
- Reporting: Includes medical interpretation
- Suitable for: Pediatric, neonatal, and adult patients
- Shipping: Available throughout the EU and internationally
Suitable for postal submission.
Additional information
| Weight | 0,5 kg |
|---|---|
| Dimensions | 2,5 cm |
| Sample Type |
