Neurological
• Global developmental delay
• Intellectual disability
• Seizures (often refractory)
• Hypotonia → spasticity
• Cerebral atrophy & white matter abnormalities
Hepatic
• Elevated transaminases
• Steatosis & cholestasis
Dysmorphic
• Macrocephaly
• Hypertelorism
• Coarse facial features
ADK