Early diagnosis of MoCD Type A is crucial
Precious time could be lost if molybdenum cofactor deficiency (MoCD) Type A is not identified as early as possible. If it is missed or confused with other seizure disorders that may occur in newborns, intervention could be delayed, allowing MoCD Type A to progress rapidly and potentially cause irreparable brain damage.1
Doctors can act quickly if they suspect MoCD by using current testing methods, which can also help determine possible treatment.
Biochemical tests can be used to measure naturally occurring substances in the body. These tests assess levels of sulfites and other key biochemical “markers” that may indicate an MoCD diagnosis. Urine samples from newborns can be used to screen for MoCD. The following test results could mean that MoCD is present1:
- Elevated S-sulfocysteine (SSC) in urine
- Elevated sulfites in urine
- Elevated xanthine and/or hypoxanthine
- Low or undetectable uric acid
Rapid turnaround time for these tests is critical
Every minute counts when identifying the presence of MoCD. Origin Biosciences is partnering with clinical laboratories to facilitate rapid turnaround of biochemical tests. See below for laboratories that offer rapid turnaround time of biochemical tests.
Additional examination may include encephalography (EEG), used to monitor seizure activity and response to antiseizure treatment, and magnetic resonance imaging (MRI) to determine the extent of any damage to the nervous system.1,2
An intractable seizure in newborns demands early action
A seizure in a newborn that is not controlled by the first dose of antiseizure medications could be the first sign of MoCD Type A.3 The disorder may be confused with hypoxic-ischemic encephalopathy (HIE), which occurs more frequently.4,5 MoCD Type A progresses rapidly, so it is critical for clinicians to rule it out as quickly as possible, which can be accomplished with a biochemical test.1 The STAT Approach was created as an easy-to-remember method to help healthcare providers be the first line of defense against MoCD Type A.
MoCD subtypes can only be confirmed with a genetic test
Though biochemical tests can be used to screen for isolated sulfite oxidase deficiency (ISOD) and MoCD, only genetic tests can distinguish subtypes of MoCD.1,2 A mutation of the MOCS1 gene distinguishes MoCD Type A.1 Many genetic panels include testing for MOCS1. Before selecting a testing lab, make sure they offer MOCS1 on their gene panel.
Following a diagnostic checklist can help identify MoCD Type A early
Origin Biosciences has created a Diagnostic Checklist to help physicians identify MoCD Type A as quickly as possible.
Tools to help identify MoCD Type A as soon as possible
The MoCD STAT Kit is designed to increase awareness of MoCD Type A in the neonatal intensive care unit (NICU). It includes a large cling poster displaying the Diagnostic Checklist and the STAT approach. The poster can be displayed inside the hospital to help clinicians make the all-important diagnosis of MoCD when required.
Biochemical testing guidelines for Duke University and the Mayo Clinic are also available in a downloadable brochure.
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- Mechler K et al. Genet Med. 2015;17(12):965-970.
- Zaki MS et al. Eur J Paediatr Neurol. 2016;20(5):714-722.
- National Institutes of Health. Molybdenum cofactor deficiency. https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency. Accessed May 21, 2020.
- Durmaz MS et al. Radiol Case Rep. 2018;13(3):592-595.
- Vasudevan C et al. Semin Fetal Neonatal Med. 2013;18(4):185-191.