MOC disease, also known as Molybdenum Cofactor Deficiency (MoCD), is a rare, severe genetic disorder that typically manifests in newborns. It's characterized by acute encephalopathy, intractable seizures, and poor feeding.
Understanding Molybdenum Cofactor Deficiency (MoCD)
MoCD results from a deficiency in the molybdenum cofactor, which is essential for the function of several important enzymes. These enzymes play a vital role in various metabolic processes within the body. Because these enzymes can't function properly, toxic substances build up, leading to severe neurological damage.
Key Characteristics of MoCD:
- Onset: Typically occurs in the neonatal period (shortly after birth).
- Neurological Issues: Causes severe neurological problems, including:
- Acute encephalopathy (brain dysfunction)
- Intractable seizures (seizures that are difficult to control with medication)
- Feeding Difficulties: Infants often experience poor feeding.
- Diagnosis: Suspicion arises based on clinical findings, supportive laboratory results, brain MRI findings, and family history.
Why is Molybdenum Cofactor Important?
The molybdenum cofactor is a crucial component for the following enzymes:
- Sulfite oxidase: Important for breaking down sulfur-containing amino acids. Its dysfunction leads to sulfite buildup, which is toxic to the brain.
- Xanthine dehydrogenase: Involved in purine metabolism.
- Aldehyde oxidase: Involved in the metabolism of various compounds.
