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Updated: Feb 10, 2026

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

Abdulkarim O Alanazi1, Nouf F Alshammari2, Waleed Alsuhibani2

  • 1Department of Psychiatry, Prince Sultan Military Medical City, Riyadh, SAU.

Cureus
|February 9, 2026
PubMed

Insights

Molybdenum cofactor deficiency type A (MoCD-A) in an 18-year-old male presented with an attenuated phenotype, including developmental delays and autism spectrum disorder. This case highlights the importance of metabolic testing for such complex neurodevelopmental presentations.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Molybdenum cofactor deficiency type A (MoCD-A) is a rare genetic disorder.
  • It typically presents in infancy with severe neurological impairment.

Keywords:
attenuated phenotypeautism spectrum disordermocs1molybdenum cofactor deficiencyneurodevelopmental disorders

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