Eurofins Biomnis code

MALOU

Synonyms

• [To be translated]

Specialty

Analytical Chemistry

Clinical significance

Methylmalonic acid analysis - urine is reserved for the diagnosis and monitoring of methylmalonic acidemia/aciduria and requires the completion of clinical information form R 26. Methylmalonic acid is an intermediate derivative of the conversion of propionic acid to succinic acid, a substrate of the Krebs cycle. High urinary levels in methylmalonic aciduria are accompanied by clinical signs: neurological distress appearing either at birth or later, without convulsions, with acidosis and ketosis with or without hyperlactacidaemia with hyperammonaemia and hyperglycaemia. When investigating vitamin B12 deficiency in individuals following a vegetarian diet, plasma methylmalonic acid levels should be measured. Depending on the result of the plasmatic assay, the urinary assay can be discussed.

Preanalytics

• 15 mL :
• urines
•   FROZEN
• Freezing within 4 hours

• A tube specifically for this analysis : No

Further information

Clinical datas must be filled on the form R26.
The urinary methylmalonic acid assay is reserved for the diagnosis and follow-up of patients with methylmalonic aciduria or an important anomaly of cobalamin metabolism.

Documents to download

• Specific clinical information form (R26-INTGB)

Methodology

Gas Phase Chromatography / Mass Spectrometry (GC-MS)

Turnaround time

4 weeks

Caption