Navigating Molybdenum Cofactor Deficiency: A Multifaceted Case Study on Diagnosis, Clinical Presentation, and Therapeutic Strategies
Lynn Srour1 and Chadi Al ALAM2*
1Medical Student; Year 6, University of Balamand, Lebanon
2Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology- ACPN, Abu Dhabi, UAE
*Corresponding Author: Chadi Al ALAM, Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology- ACPN, Abu Dhabi, UAE.
Received: August 11, 2023;
Published: August 31, 2023
The abstract discusses a case study of a 3-year-old and 7-month-old male patient with Molybdenum Cofactor Deficiency (MoCD), a rare and severe autosomal recessive metabolic disorder characterized by impaired biosynthesis of the molybdenum cofactor (MoCo), essential for several enzymes involved in sulfur metabolism. The patient presented with lethargy, hypotonia, and delayed milestones from infancy. Despite early intervention involving various therapies, the patient continued to experience severe motor, psychomotor, and speech delays. Brain MRI showed specific abnormalities consistent with MoCD, and genetic testing identified a homozygous mutation in the MOCS2 gene. The case underscores the challenges in managing MoCD and the need for comprehensive care strategies. MoCD's diverse clinical presentation and genetic underpinnings are explored, highlighting the importance of raising diagnostic suspicion, particularly in consanguineous contexts, and providing informed family guidance. Current management focuses on supportive care and monitoring, but the lack of a definitive cure underscores the necessity for further research in this field.
Keywords: Cofactor Deficiency; Diagnosis; Clinical Presentation; Therapeutic
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