Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia.

PMID 41658802 | PMCID PMC12873551 | DOI 10.7759/cureus.100887 · Cureus · 2026 · View on PubMed ↗

We report the case of an 18-year-old male with genetically confirmed molybdenum cofactor deficiency type A (MoCD-A) due to a homozygous pathogenic MOCS1 variant. He presented in infancy with hypotonia and developmental delay and experienced a generalized tonic seizure at 20 months of age, followed by long-term seizure remission. His clinical course was notable for preserved motor function, below-average cognitive ability, marked speech delay, autism spectrum disorder (ASD), and prominent inattentive symptoms. Metabolic testing demonstrated elevated urinary xanthine, hypoxanthine, and S-sulfocysteine levels, supporting impaired sulfite oxidase activity. Neuroimaging revealed a small, focal hypodensity in the left basal ganglia without progressive changes. This case illustrates an attenuated phenotype of MoCD-A, with survival into adulthood and detailed neuropsychiatric characterization, expanding the recognized clinical spectrum and underscoring the importance of considering metabolic etiologies in patients with overlapping developmental and behavioral features.