Table 2.

Select Features of Early-Onset or Severe Molybdenum Cofactor Deficiency

Feature% of Persons
w/Feature		Comment
Encephalopathy100%
DD/ID100%
Neonatal seizures93%Multiple semiologies, incl epileptic spams in ~4% of affected persons; often refractory to ASM
Feeding difficulties66%At onset of symptoms
Craniofacial
dysmorphic features		61%May incl enophthalmos, prominent cheeks, coarse facies, & bitemporal narrowing
Appendicular
hypertonia		59%Rigidity may be present at onset of symptoms & persist throughout disease course; spasticity emerges later & progressively worsens.
Acquired
microcephaly		45%
Axial hypotonia41%Presents early in disease course w/head lag & axial hypotonia
Ectopia lentis16%Typically develops later in disease course
Hyperekplexia9%In classic hyperekplexia, affected newborns can have significant hypertonia.

ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability

From: Molybdenum Cofactor Deficiency

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