Molybdenum cofactor deficiency type A is a rare, genetic, metabolic disorder that manifests within the first few days of life and is characterized by intractable seizures, brain injury, and even death. The affected children suffer from severe and rapidly progressive neurological damage causing seizures and difficulties in feeding. They also develop muscle weakness due to the accumulation of toxic sulphite metabolites in their central nervous system. Most of the affected children die very early due to infection.
The existing management strategies include only supportive treatment and therapies to manage complications. The US Food and Drug Administration (USFDA) has recently approved fosdenopterin injection to reduce the risk of mortality due to molybdenum cofactor deficiency type-A. This is the first FDA-approved therapy for the management of this rare condition. The intravenous…
