Science / MoCD Type A

What is MoCD Type A?

Molybdenum Cofactor Deficiency Type A is a rare, rapidly progressive genetic disease that can appear shortly after birth, with a significant unmet need.

Impact Stats

~3–4 years

Median survival without intervention (Type A ~4 yrs; all MoCD ~3 yrs)1,2

Most common

MoCD Type A (MOCS1) is the most prevalent subtype1

Hours to days

MoCD Type A presents within hours to days of birth; Typical onset of intractable seizures after birth1,3

About MoCD Type A

Molybdenum Cofactor Deficiency Type A (MoCD Type A) is an ultra-rare genetic disease that can appear shortly after birth.4–6

MoCD Type A is the result of a change in a gene called MOCS1, which prevents the body from producing a compound called cPMP and other compounds, including MoCo.4,5,7,8 Without MoCo, an enzyme called sulfite oxidase does not function, and toxic levels of sulfite and SSC build up in the body, particularly in a child's developing brain.4,7,9


Children with MoCD Type A do not have symptoms at birth but often develop seizures and feeding issues within days.6,10 The disease progresses rapidly, making early diagnosis critical.7,9,10
Wyllow, living with MoCD Type A

Community’s Unmet Need

Traditionally, care has been limited to managing symptoms and does not address the underlying cause.
Diagnosis can be challenging due to overlap with other conditions and limited testing availability.

Diagnosis and Testing

Diagnosis typically involves biochemical testing followed by genetic confirmation. Rapid diagnosis is critical.

Resources
NULIBRY (fosdenopterin)
NIH MoCD Information
CHOP Genetic Testing

References