Table 8. [Recommended Surveillance for Individuals with Molybdenum Cofactor Deficiency]. - GeneReviews®

Manifestation	Evaluation	Frequency/Comment
Essential amino acid deficiency	Measurement of essential amino acids ¹	Routinely in those on cysteine-restricted low-protein diet w/restriction of whole natural protein
Neurologic signs/ symptoms	Monitor those w/seizures as clinically indicated. Assess for new manifestations incl seizures, changes in tone, mvmt disorders, & headaches.	At each visit
Delayed acquisition of developmental milestones	Monitor developmental milestones.
Neuropsychological testing using age-appropriate standardized assessment batteries Standardized quality-of-life assessment tools for affected persons & parents/caregivers	As needed
Poor growth	Measurement of growth & head circumference	At each visit
Motor dysfunction	Physical medicine, OT/PT assessment of mobility, self-help skills
Ectopia lentis	Ophthalmology eval	As clinically indicated or at least annually
Miscellaneous/ Other	Assess family need for social work support (e.g., palliative / respite care, home nursing, other local resources) & care coordination.	At each visit

Manifestation

Evaluation

Frequency/Comment

Essential
amino acid
deficiency

Measurement of essential amino acids ¹

Routinely in those on cysteine-restricted low-protein diet w/restriction of whole natural protein

Neurologic
signs/
symptoms

Monitor those w/seizures as clinically indicated.
Assess for new manifestations incl seizures, changes in tone, mvmt disorders, & headaches.

At each visit

Delayed
acquisition of
developmental
milestones

Monitor developmental milestones.

Neuropsychological testing using age-appropriate standardized assessment batteries
Standardized quality-of-life assessment tools for affected persons & parents/caregivers

As needed

Poor growth

Measurement of growth & head circumference

At each visit

Motor
dysfunction

Physical medicine, OT/PT assessment of mobility, self-help skills

Ectopia lentis

Ophthalmology eval

As clinically indicated or at least annually

Miscellaneous/
Other

Assess family need for social work support (e.g., palliative / respite care, home nursing, other local resources) & care coordination.

At each visit

From: Molybdenum Cofactor Deficiency

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.