Table 5. [Recommended Evaluations Following Initial Diagnosis of Molybdenum Cofactor Deficiency]. - GeneReviews®

Evaluation	Comment
Consultation w/metabolic physician / biochemical geneticist ¹	Transfer to specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended).
Consultation w/neurologist	To evaluate & manage seizures
Consultation w/gastroenterologist, nutritionist, feeding team	To evaluate: Aspiration risk & nutritional status; Gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Polysomnogram	To assess for central apnea in those w/apnea after a long-term EEG excludes seizures as the primary cause.
Consultation w/ophthalmologist	To assess for ↓ vision, abnormal ocular movement, strabismus
Consultation w/psychologist &/or social worker	To ensure understanding of the diagnosis & assess parental / affected person's coping skills & resources
Consultation w/PT, OT, & speech therapist	To aid in developmental deficiencies
Developmental assessment	Consider referral to developmental pediatrician.
Genetic counseling ²	To inform affected persons & families re nature, MOI, & implications of molybdenum cofactor deficiency in order to facilitate medical & personal decision making

Evaluation

Comment

Consultation w/metabolic physician / biochemical geneticist ¹

Transfer to specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended).

Consultation w/neurologist

To evaluate & manage seizures

Consultation w/gastroenterologist, nutritionist, feeding team

To evaluate:

Aspiration risk & nutritional status;
Gastrostomy tube placement in those w/dysphagia &/or aspiration risk.

Polysomnogram

To assess for central apnea in those w/apnea after a long-term EEG excludes seizures as the primary cause.

Consultation w/ophthalmologist

To assess for ↓ vision, abnormal ocular movement, strabismus

Consultation w/psychologist &/or social worker

To ensure understanding of the diagnosis & assess parental / affected person's coping skills & resources

Consultation w/PT, OT, & speech therapist

To aid in developmental deficiencies

Developmental assessment

Consider referral to developmental pediatrician.

Genetic counseling ²

To inform affected persons & families re nature, MOI, & implications of molybdenum cofactor deficiency in order to facilitate medical & personal decision making

From: Molybdenum Cofactor Deficiency

GeneReviews^® [Internet].

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

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