Main Clinical Features
Neurological: Global developmental delay, intellectual disability, seizures (often refractory), hypotonia, cerebral atrophy, white matter abnormalities.
Hepatic: Liver dysfunction (elevated transaminases), steatosis, cholestasis (may mimic metabolic liver diseases).
Dysmorphic Features: Macrocephaly, hypertelorism, coarse facial features.
Other: Growth abnormalities (failure to thrive or overgrowth), possible cardiac/renal involvement.
Prevalence
Extremely rare (fewer than 25 reported cases worldwide).
Likely underdiagnosed due to phenotypic variability and overlap with other metabolic disorders.
Inheritance
Autosomal recessive (biallelic pathogenic variants in ADK).
Parents are typically asymptomatic carriers.
ADK