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.

caregiver holding the feet of an infant with refractory seizures

What are the symptoms of MoCD Type A?

Disorders of sulfite intoxication, including MoCD Type A, are primarily characterized by neurological symptoms1

Neurological symptoms may present acutely in the neonatal period or gradually later in infancy and early childhood.2

Clinical Presentation

Symptoms that present acutely in the neonatal period include2,3:

Intractable seizures

Encephalopathy

Feeding difficulties

Exaggerated startle response (hyperekplexia)

High-pitched cries

Motor/tone symptoms
• Central hypotonia
• Extremity hypertonia
• Quadriparesis
• Opisthotonos

Intracranial hemorrhage

Metabolic acidosis

EEG graph representing seizures
brain representing altered structure
milk bottle representing poor feeding
easily startled infant
megaphone representing incessant crying
arm representing motor difficulties
blood drop representing bleeding
caring hands representing late-stage mocd
Share the story of MoCD Type A

Neonatal onset of MoCD is the most common, with later onset occurring in only ~10% of cases2,3

  • Median onset of neurological symptoms is the first day of life in children with early onset MoCD (N=74).1
  • Median onset of symptoms with postneonatal onset varies but may occur as late as a year postnatally.2,3
chart showing 90% of infants with neonatal onset MoCD

Identifying the signs and symptoms of MoCD Type A is the first step toward the right diagnosis2,4

Learn how to diagnose MoCD Type A today.

MoCD Type A diagnosis
the toes of a neonate in the NICU

References: 1. Mechler K, Mountford W, Hoffmann G, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med. 2015;17(12):965-970. 2. Misko A, Liang Y, Kohl J, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020;6(4):1-10. 3. Spiegel R, Schwahn BC, Squires L, Confer N. Molybdenum cofactor deficiency: a natural history. J Inherit Metab Dis. 2022;45(3):456-469. 4. Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. Handb Clin Neurol. 2019;162:449-481.

For more information, contact Medical Affairs at Sentynl Therapeutics at 1-888-507-5206