A pattern of inheritance in which a child must receive two nonworking copies of a gene, one from each parent, to develop the condition. Parents who carry one nonworking copy typically do not show symptoms. ¹

Urine or blood test checking for elevated sulfite or SSC levels. With clinical symptoms, sufficient to confirm MoCD diagnosis^1,2.

A naturally occurring molecule required for the production of molybdenum cofactor. In MoCD Type A, mutations in the MOCS1 gene disrupt cPMP production, impairing downstream enzyme function.^1,3

A broad term describing disease or dysfunction of the brain. In MoCD Type A, toxic metabolite accumulation can lead to progressive encephalopathy beginning in the newborn period.^1,3

Identifies gene mutations to differentiate MoCD subtypes (A = MOCS1, B, C). Results can take several weeks.^1,2

Brain injury caused by reduced oxygen or blood flow. Brain imaging findings in MoCD Type A may resemble hypoxic-ischemic injury, which can complicate diagnosis.^1,4

Seizures not responding to standard treatment. Most common presenting symptom in MoCD Type A, typically appearing within hours to days after birth.^1,4

Three subtypes of molybdenum cofactor deficiency. Type A (MOCS1) is most common. Most children with MoCD survive ~3 years; those with Type A survive ~4 years without treatment.^1,5

Rare genetic disease caused by MOCS1 mutations preventing production of cPMP and MoCo. Without MoCo, toxic sulfite and SSC accumulate in the brain, causing seizures, severe brain abnormalities, and other MoCD features.¹

A gene that provides instructions for producing proteins necessary to synthesize cyclic pyranopterin monophosphate (cPMP), a precursor to molybdenum cofactor. Mutations in MOCS1 cause MoCD Type A.¹

An ultra-rare, inherited metabolic disorder caused by mutations in genes involved in molybdenum cofactor synthesis. MoCD includes multiple subtypes, including Type A, Type B, and Type C.¹

A molecule required for the activity of certain enzymes, including sulfite oxidase. Without molybdenum cofactor, toxic substances such as sulfite can accumulate in the body.¹

The first 28 days of life. MoCD Type A typically presents during this time, often within the first days after birth.^1,4

Abnormal electrical activity in the brain causing changes in consciousness and muscle control.^1,4

An enzyme that depends on molybdenum cofactor to function properly.
When sulfite oxidase activity is impaired, sulfite accumulates and contributes to
neurologic injury.¹

Toxic substance accumulating alongside sulfite in MoCD Type A; contributes to seizures, brain abnormalities, and developmental delays.^1,4

Toxic substance accumulating in MoCD Type A when sulfite oxidase cannot function; believed to cause seizures and brain abnormalities.^1,4

Harmful substances that accumulate when normal metabolic pathways are disrupted. In MoCD Type A, sulfite accumulation is a primary contributor to neurologic damage.^1,2