Table 7.

Supportive Treatment of Manifestations in Individuals with Molybdenum Cofactor Deficiency

ManifestationTreatmentConsideration/Other
Seizures/
Epilepsy 		Standardized treatment w/ASM by experienced neurologist.
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Avoid valproate, as sulfite intoxication impairs mitochondrial function in vitro.
  • Education of parents/caregivers 1
Consider pyridoxine supplementation.Because ASAA is ↑ in some persons w/MoCD 2, pyridoxine supplementation has been used, but w/mixed results.
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Poor weight
gain / FTT 		Feeding therapy; gastrostomy tube placement may be required for concerns re aspiration &/or persistent feeding issues.Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Thiamine
deficiency 		Thiamine supplementation:
  • Infants: 1.2 mg/day
  • Children & adolescents: 50 mg/1x/day ‒ 100 mg/2x/day
Based on ability of sulfite to degrade thiamine in vitro & low risk of toxicity, supplementation is recommended.
Spasticity &
dystonia 		Standardized treatment w/oral medications, targeted botulinum toxin/phenol injections, bracing, PTSee Motor Dysfunction.
Headaches Magnesium supplementation & standardized migraine prophylacticsAnecdotally, the authors have had good success w/magnesium supplementation in mildly affected persons. 3
Central apnea Tracheostomy tube placement may be considered in severe cases but is not typically necessary.Brain stem function typically preserved; frequency of life-threatening apnea unknown
Ectopia lentis Standard treatment per ophthalmologist
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Ongoing assessment of need for palliative care involvement &/or home nursing

ASAA = alpha-aminoadipic semialdehyde; ASM = anti-seizure medication; DD = developmental delay; FTT = failure to thrive; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

2.

It should be noted that alpha-aminoadipic semialdehyde excretion has been detected in some persons with molybdenum cofactor deficiency [Mills et al 2012, Struys et al 2012].

3.

Magnesium is also an N-methyl D-aspartate (NMDA) receptor blocker and could have added benefit in the setting of S-sulfocysteine mediated NMDA receptor overactivation.

From: Molybdenum Cofactor Deficiency

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