present at the time of birth (cortical atrophy, cystic leukomalacia, or basal ganglia degeneration). [ncbi.nlm.nih.gov]

• Feeding Difficulties

  Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing. [ncbi.nlm.nih.gov]

• Ectopia Lentis

  Approximately 16% of affected individuals develop ectopia lentis, which presents later in the course of disease (age at identification: median 1 year; range 3 months to 8 years). [ncbi.nlm.nih.gov]

• Frontal Bossing

  Affected individuals have dysmorphic facial features that include coarse facial features, bitemporal narrowing, long face, prominent cheeks, widely spaced eyes, enopthalmos, frontal bossing, long palpebral fissures, long philtrum, small nose, and thick [ncbi.nlm.nih.gov]

Supportive Treatment of Manifestations in Individuals with Molybdenum Cofactor Deficiency Manifestation Treatment Consideration/Other Seizures/ Epilepsy Standardized treatment w/ASM by experienced neurologist. [ncbi.nlm.nih.gov]

L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. [link.springer.com]

L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. [link.springer.com]

Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). [ncbi.nlm.nih.gov]

The diversity of reported semiologies suggests that seizures in those with typical MoCD are secondary to the diffuse cortical degeneration seen on ancillary brain imaging and not specific to the underlying pathophysiology. Developmental findings. [ncbi.nlm.nih.gov]

Prevention of Primary Manifestations See Table 6. Surveillance In addition to regular evaluations by a metabolic specialist, the following are recommended. Table 8. [ncbi.nlm.nih.gov]