For US audiences only

Expedited SSC testing, defined here to mean diagnostic results within 48 hours of when a sample is received, is available from certain laboratories, including Duke and Mayo Clinic. Other laboratories may offer expedited SSC testing services, and turnaround times may vary. The ultimate choice of laboratory is solely between the patient and the treating physician. Please contact your preferred laboratory to verify whether expedited testing is available and to confirm turnaround time.

If you are aware of another laboratory that provides expedited SSC testing or would like to have your laboratory included on this brochure, please email medical_affairs@sentynl.com. Sentynl does not subsidize any tests nor does it have any financial interests in the laboratories listed.

Interactive quick facts about MoCD Type A

MoCD Type A is a fatal condition causing intractable seizures and is commonly undiagnosed and/or has considerable diagnostic delay.
Know the facts, so you can act swiftly.
Toes of an infant who could have MoCD Type A

MoCD, molybdenum cofactor deficiency.

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

MoCD Type A is a rare IEM that could be the cause of neonatal seizures.1,2
Up to 30% of intractable seizures are caused by IEMs1

MoCD, molybdenum cofactor deficiency. IEM, inborn error of metabolism.

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

A line drawing of an infant
The median onset of neurological symptoms is the 1st DAY of life3,*

*In one study of children diagnosed with early-onset MoCD (N=74).

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

A brain representing altered structure
The neurological symptoms of MoCD Type A are caused by increased sulfite levels in the brain, called sulfite intoxication.2

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

Suspect HIE but the following were normal?4
  • Baby delivery
  • Arterial cord blood pH
  • Apgar 1 and 5 min scores
Consider testing for MoCD Type A
Test tubes for identification of variants

HIE, hypoxic-ischemic encephalopathy.

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

Act swiftly and test in order to help preserve brain function.
  • Order: Expedited SSC test (urine for sulfites)
  • Confirm diagnosis: Rapid whole genome sequencing
Test tubes for identification of variants

This is not an exhaustive list

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

Additional symptoms may help distinguish MoCD Type A from disorders like HIE.5
  • Exaggerated startle response
  • High-pitched cries
  • Feeding difficulties
Icon of an infant who could show MoCD Type A symptoms

Symptom onset could begin on day one of life.

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

Get more information on how to diagnose the patient faster.
Download the diagnostic guide to learn more about ordering a test today.
Download diagnostic guide
Brochure for Diagnosing Sulfite Intoxication Disorder Including MoCD Type A by Sentynl Therapeutics, Inc.

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.

MoCD Type A is a devastating and fatal disorder without intervention.2
Learn how to diagnose MoCD Type A today.
Sign up for updates on MoCD Type A

MOC-2024-1548-v1

Caregiver watching over a baby in the NICU

References: 1. Chan DWS, Tan ES, Cleary MA. Proc Singapore Healthc. 2010;19(2):112-123. 2. Spiegel R, Schwahn BC, Squires L, Confer N. J Inherit Metab Dis. 2022;45(3):456-469. 3. Mechler K, Mountford W, Hoffmann G, Ries M. Genet Med. 2015;17(12):965-970. 4. Massaro AN, Murthy K, Zaniletti I, et al. J Perinatol. 2015;35:290–296. 5. Bayram E, Topcu Y, Karakaya P, et al. Eur J Paediatr Neurol. 2013;17(1):1-6.