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

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