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caregiver holding the feet of an infant with unresponsive seizures

What are the symptoms of MoCD Type A?

The appearance of MoCD Type A symptoms is usually due to changes in or injury to the brain1

The signs and symptoms of MoCD Type A may show shortly after birth (early onset) or develop later in infancy or childhood (late onset).2

MoCD Type A signs & symptoms

Watch for the symptoms of MoCD Type A, which can include2,3:

Seizures that don’t respond to treatment

Abnormal brain function or structure

Feeding difficulties

Exaggerated startle response

High-pitched cries

Muscle or motor symptoms
• Changes in muscle tone
• Muscle spasms
• Muscle weakness

Bleeding inside the brain

Acidic blood (called metabolic acidosis)

EEG graph representing seizures
brain representing altered structure
milk bottle representing poor feeding
startled infant
megaphone representing incessant crying
arm representing motor difficulties
blood drop representing bleeding in brain
caring hands representing late-stage mocd

It is more common for infants with MoCD Type A to experience symptoms early1

Seeing symptoms start after the first month of life happens in only ~10% of children with MoCD Type A. Typically, these symptoms are less obvious or critical than those seen in newborns and may include delays in achieving developmental milestones and abnormal movements. MoCD may be under-identified in older infants and children.2,3

Symptoms of MoCD Type A are usually seen within the first day or two of life.1,3

graph showing 90% of infants with early onset MoCD

Understanding the symptoms of MoCD Type A may lead to earlier identification and intervention

Find out which tests your child’s doctor may order if they suspect your child has MoCD Type A.

How is MoCD Type A diagnosed?
the toes of a neonate in the NICU

References: 1. Mechler K, Mountford W, Hoffmann G, et al. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med. 2015;17: 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.