ArticleCureus2026
Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
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.
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